MIND Institute

UC Davis Pediatric Mobile Clinic brings specialty care to children and families across Sacramento region

Mon, 06 Apr 2026 07:00:00 GMT

UC Davis Children’s Hospital is expanding access to pediatric specialty care through its Pediatric Mobile Clinic, a community-centered clinic on wheels. The vehicle delivers specialty medical and mental health services directly to schools, mental health organizations, and other community agencies across the Sacramento region.

5 people stand in front of the van.

Launched in 2024, the Pediatric Mobile Clinic provides free health care services to historically marginalized and underserved populations by partnering with school districts and community-based organizations to reduce barriers to care for children facing access challenges. The clinic currently provides general pediatrics, mental health, developmental-behavioral pediatrics and asthma care in a mobile clinic setting.

Serena Yang greets a patient family at the pediatric mobile van.

This includes acute care, assessments for autism and other neurodevelopmental conditions and care for depression, anxiety and other childhood conditions.

“This program is about meeting families where they are,” said Serena Yang, division chief of general pediatrics and vice chair of community engagement at UC Davis Health. Yang is part of the mobile clinic team made up of clinicians and staff from the MIND Institute, CAARE Diagnostic and Treatment Center and Children’s Hospital. “By bringing specialty services into schools and community spaces, we’re improving access, building trust and supporting children’s health together.” The Pediatric Mobile Clinic is entirely funded by a grant from Children’s Miracle Network at UC Davis Children’s Hospital.

School-based partnership shows early impact

In its first year of regularly scheduled clinics from July 1, 2024 to June 30, 2025, the Pediatric Mobile Clinic established a weekly presence at the Cordova Lane Center in partnership with Folsom Cordova Unified School District. Clinics served children with developmental concerns, mental health needs, asthma and school-entry health requirements – many of whom had not previously accessed specialty care.

Key results from the first year include:

52 children received specialty consultations directly at school sites, ranging in age from 3 to 15 years old.
No-show rates were low (less than 10%), reflecting improved access and reducing transportation barriers to care.
Nearly half of children served were insured by Medicaid or had pending coverage, but many were not connected to primary care.
Families rated their experience an average of 4.95 out of 5, citing convenience and support.

Regulatory T cells altered in children with autism

Thu, 02 Apr 2026 07:00:00 GMT

Two new studies from the UC Davis MIND Institute examined regulatory T cells (Tregs) and their potential role in neuroinflammation and behavioral changes associated with autism.

A 3D illustration of pink immune cells with blue spikes floating against a soft, light background.

Tregs act as immune system "brakes," calming inflammation to prevent overreaction. They are often decreased in autistic individuals.

Previous studies have found higher levels of inflammatory immune cells in the blood, brain and gastrointestinal tissues of people with autism. These increased inflammatory responses are often linked to greater behavioral support needs, while higher levels of Tregs are associated with improved behavioral outcomes. Despite this, Tregs have not been well studied in autistic children, and their potential as a therapeutic target remains largely unexplored.

Rachel Moreno, first author of the study, is a postdoctoral fellow at the UC Davis MIND Institute.

Altered Tregs in autistic children

The first study, published in the Journal of Neuroinflammation, characterized Tregs in children with autism. It determined if gastrointestinal (GI) issues, a common co-occurring condition, altered Tregs in a unique way.

The researchers found autistic children had altered Tregs both in number and in the genes those cells use. This was compared to typically developing children. All participants were enrolled in the CHARGE study (Childhood Autism Risk from Genetics and Environment), an ongoing study that supports autism research.

The researchers compared the number and type of Tregs in 36 children with autism and 18 typically developing children. They also examined gene expression in Tregs to determine if there were differences between the two groups. In addition, they looked at the relationship between Tregs and gastrointestinal symptoms in autistic children.

The researchers found children with autism showed altered Tregs. Compared to typically developing children, children with autism had:

A lower number of Tregs. Tregs were generally reduced in autistic children but decreases in specific Treg populations differed depending on whether a child had GI issues. Children with autism and GI issues had fewer Tregs capable of producing anti-inflammatory proteins. Children without GI issues had fewer Tregs capable of dividing after activation.
Differentially expressed genes. Tregs from autistic children had 213 differentially expressed genes, with 171 upregulated (increased output) and 42 downregulated (decreased output).

The upregulated genes mainly help cells reorganize and repair DNA and adjust how they manage energy and fat metabolism. The downregulated genes were mostly involved in energy production, such as the conversion of oxygen and nutrients into usable energy.

The researchers note that more research is needed, but that these changes in metabolism and DNA organization suggest the identity of Tregs is unstable. One commonality was that having fewer Tregs was associated with more challenging behaviors in both typically developing children and children with autism.

“These differences in Treg populations may help explain the higher levels of inflammation seen in autism and could be linked to both gastrointestinal problems and certain behavioral traits,” said Rachel Moreno, a postdoctoral fellow at the MIND Institute and first author of the study. “This data further supports the idea that the immune system plays an important role in autism in at least some individuals.”

Children with autism and GI problems (ASDgi) had lower expression of GITR (an immune modulator) than those without GI problems (ASDnogi) and typically developing children (TD).

Exploring Tregs as potential biological therapies

There is growing interest in biological therapies for autism that target Tregs.

In a second study, also published in the Journal of Neuroinflammation, the authors assessed whether increasing Tregs could reduce inflammation and behavioral challenges.

They used a mouse model of altered neurodevelopment, maternal immune activation (MIA), in which offspring exhibit autism-like behaviors.

The team transferred Tregs from healthy mice into male and female MIA mice, and evaluated tissues commonly inflamed in autism, including blood, brain and gut.

They found significant sex differences in the MIA mouse offspring that received the Treg transfer, with males showing greater changes than females.

Two researchers elected as AAAS Fellows for shaping science of neurological conditions

Thu, 26 Mar 2026 07:00:00 GMT

UC Davis School of Medicine Professors Janine LaSalle and David J. Segal have been elected Fellows of the American Association for the Advancement of Science (AAAS). With this lifetime honor, they join a century-long UC Davis legacy of AAAS Fellows who lead exceptional science scholarship.

Side by image of Professor Janine LaSalle and David Segal

School of Medicine scholars shaping science of neurological conditions

Janine LaSalle is a professor of Medical Microbiology and Immunology, affiliated with the MIND Institute and the Genome Center. She is also deputy director of the Environmental Health Sciences Center and co-director of the Perinatal Origins of Disparities Center. She was elected an AAAS Fellow for her pioneering research on gene x environment epigenetics (heritable chromosome changes that affect gene functions), specifically for autism. She’s also being honored for her research on epigenetic mechanisms in neurodevelopmental conditions and the placenta.

Professor Janine LaSalle with members of her lab.

David J. Segal is a professor and chair of the Department of Biochemistry and Molecular Medicine. He also holds appointments in the Department of Pharmacology, the UC Davis Genome Center and the UC Davis MIND Institute. Segal was recognized for his distinguished contributions to the field of molecular and translational genetics. He is a leader in developing gene editors like zinc finger (distinct DNA-binding protein structures that include zinc ions), TALE and CRISPR and applying them to treat neurologic conditions.

“This national recognition of Dr. Segal’s and Dr. LaSalle’s remarkable contributions to deciphering complex neurodevelopmental conditions, like autism and Angelman syndrome, speaks to their success in advancing science that can transform lives,” said UC Davis School of Medicine Dean Susan Murin. “Becoming an AAAS Fellow is among the most distinct honors within the scientific community, and we are proud that their impactful work is being recognized.”

Professor David Segal with his lab members.

A century of UC Davis AAAS Fellows

In 1926, Professor Tracy Storer became the first UC Davis elected a AAAS Fellow. Since then, 358 UC Davis professors have been elected. This year, in addition to Segal and LaSalle, two UC Davis professors were elected to this distinguished honor.

Joanna Chiu is a professor and chair of the Department Entomology and Nematology. She is recognized for her great contributions to the understanding of the molecular mechanisms by which circadian clocks integrate environmental and metabolic signals to regulate animal biological rhythms.

Gitta Coaker is a professor and Fiddyment Endowed Chair in the Department of Plant Pathology. She was elected for her work on plant pathology and immunity, particularly elucidating how plant receptors and bacterial components interface in disease. She is also recognized for her outstanding leadership and service to foster early career researchers.

The new Fellows have been invited to the annual Fellows Forum that will be held in Washington, D.C. on May 29.

New MIND Institute pathway connects HBCU students with research careers

Wed, 25 Mar 2026 07:00:00 GMT

In June, five undergraduate students from Xavier University of Louisiana will arrive at the UC Davis MIND Institute for a summer dedicated to biomedical research. The hope is that the students will be inspired to pursue a graduate degree in neuroscience, molecular biology or related field at a University of California campus. Xavier is one of the nation’s historically Black colleges and universities, often called HBCUs.

A group of five college students, all MINDGAP scholars, stand outside for a group photo next to a building lined with windows.

The program, MIND Graduate Admissions Pathway, or MINDGAP, is funded by the University of California Office of the President. It launched last summer.

“This experience has been amazing! I learned so much about myself as a scientist,” said Xi A. McWilliams, a 2025 scholar. She gained experience working in a lab, which altered her career aspirations.

“I was always under the impression that you had to choose between asking questions or solving the problem. But after coming to UC Davis, I have realized that you can do both. That has solidified my career in medicine and research.”

McWilliams is a neuroscience major with a concentration in biology and chemistry and graduates this May. She hopes to pursue an M.D./Ph.D. program, perhaps at a University of California.

A pathway to a research career

Scholars are co-mentored by faculty from both Xavier and UC Davis. They work with MIND Institute researchers for eight weeks and present their work at a national conference.

“We want to build confidence and help students see themselves as scientists,” explained Roy Ben-Shalom, an assistant professor in the Department of Neurology who co-directs the program. “If we want a research workforce that reflects our communities, we have to build the pathway to get there. When students see people who look like them leading studies and get real lab access, it builds trust. That means increased participation and better science for everyone,” he said.

Ben-Shalom notes that diverse research teams ask different questions and recruit more broadly, producing findings that translate more widely in the real world.

David Segal, professor and chair of the Department Biochemistry and Molecular Medicine, co-directs the program with Ben-Shalom.

“It’s been gratifying to see the impacts of this program, even after just one year,” Segal said. “And it’s not just a one-way street. The scholars are learning about research careers while we’re learning from them, getting new perspectives and new ideas.”

Graduate research areas of focus include:

MINDGAP scholars receive a summer stipend, lodging and transportation, and application fees are waived for those who apply to a UC graduate program. MINDGAP is open to Xavier University of Louisiana juniors. The new class will visit UC Davis in May and begin the program in mid-June.

Kaidyn White is pictured with the research poster she created during the MINDGAP program in 2025. She is crossing her arms to make an "X" for Xavier University of Louisiana, where she is an undergraduate student.

Building confidence and community

“MINDGAP was even more rewarding than I expected,” shared Kaidyn White, who was a scholar last summer. “Some of my favorite moments have been learning Western blotting and Luminex assays, interpreting real patient data and getting to ask questions directly to leaders in the field.”

She especially enjoyed weekly meetings with researchers who discussed their career paths, shared how to prepare for a Ph.D. and shed light on fields of research she hadn’t considered.

White, who is from Tampa, and McWilliams, from New Orleans, lodged with the other scholars in Davis during the summer program.

“It was amazing, with tons of exciting things to do and explore,” said McWilliams. She particularly enjoyed the Davis Farmer’s Market.

“The MIND Institute community has been especially welcoming,” White added.

White, who is a neuroscience pre-med major at Xavier, said personal experiences in her family and community cemented the importance of understanding mental health and neurological conditions.

She plans to graduate in May and wants to pursue an M.D./Ph.D. program. Thanks to MINDGAP, she has narrowed in on a field of research: the intersection of neuroscience and immune-related mechanisms in neurodevelopmental conditions.

The pathway now feels tangible.

“I’ve learned new lab techniques, connected with incredible mentors and seen firsthand how collaborative and impactful this kind of work can be,” White said.

‘I feel seen.’ One family shares their autism research experience

Tue, 24 Feb 2026 08:00:00 GMT

02/24/2026

‘I feel seen.’ One family shares their autism research experience

By Marianne Russ Sharp

‘From Labs to Lives’ series highlights human impacts of federally funded scientific research

(SACRAMENTO)

It’s not every day that someone brings a hand-sewn Big Bird costume to a research appointment at the UC Davis MIND Institute. But 11-year-old Benjamin Awalt really knows how to make an impression.

11-year-old Benjamin Awalt in his handmade Big Bird costume at a recent MIND Institute research visit.

Benjamin loves theater and creating costumes in his garage workshop. He is also autistic, diagnosed at age 3. Now, he’s taking on a new, important role: a participant in the Autism Phenome Project (APP). The federally funded research seeks to identify different subtypes of autism.

“The APP is about understanding the different developmental trajectories of autistic children,” said Christine Wu Nordahl, a professor in the Department of Psychiatry and Behavioral Sciences. “How do they change as they grow up? Are there subsets of children that follow distinct patterns of development? Our hope is to apply what we learn to help predict outcomes and support autistic individuals as they grow up.”

Because autism is a wide spectrum, Nordahl explained, there’s no single intervention or support that works for everyone. The APP team gathers blood samples, conducts behavioral assessments and tracks development from early childhood into early adulthood. They also obtain brain scans, which turned out to be a highlight of Benjamin’s visit.

“I saw my brain,” he said with a grin. “It was fun, honestly. I had to do something called an MRI.”

Benjamin Awalt works with a research team member at a recent MIND Institute visit.

Still, it wasn’t all easy. “I was experiencing something somewhat nervous for me,” Benjamin remembered. “I was a little scared of getting my blood taken.”

His courage paid off. Benjamin enjoyed talking with the researchers about his interests and activities and showing them his costume.

“I felt seen,” he said.

Taking part in research was also important to Benjamin’s mom, Brooke Myers-Awalt. “I think that knowledge is power, and I think that it’s really important that there is credible research being done and that it continues to be done, especially currently,” she said. “I think it’s super important to continue to learn more so we can support people with autism and people with other disabilities.”

Benjamin Awalt and Autism Phenome Project researchers pose for a photo outside the MIND Institute.

From Labs to Lives: The human impact of research

In 2025, UC Davis launched a campaign to increase public understanding of the impact of university-led research. From Labs to Lives spotlights the impact of research across fields, from medicine to agriculture, technology to the environment.

Long-running research studies like the APP highlight the value of building a strong scientific foundation to improve identification, intervention and more personalized care.

The APP began in 2006 and has been federally funded since 2011. “We have about 600 autistic children in the study and are actively following about 300 of them,” Nordahl said. “It is probably the largest cohort of children in the world who have been followed for this duration of time — from about 2 to 20 years of age — with these comprehensive assessments.”

It is a privilege to have families like Benjamin and Brooke open themselves up to research. I don’t take it for granted that they are willing to let us into their lives.” — Christine Wu Nordahl, professor, Department of Psychiatry and Behavioral Sciences

A path to more effective autism support

Over the years, the APP team has identified several different subtypes of autism. “One example of this is children who have what we call the big brain form of autism, or early brain enlargement,” Nordahl explained. “We are following them to identify their needs as they get older.”

Other examples include autistic children with GI symptoms and others who are more likely to experience anxiety.

“Anxiety is very common in autistic children, and we are looking at the precursors to anxiety,” Nordahl said. “At age 3, what does the brain look like? What are the behavioral predictors? Then, in future years, hopefully we can intervene early before it becomes a full-blown anxiety condition.”

Research participant Benjamin Awalt works with researcher Andrew Dakopolos during a recent visit to the UC Davis MIND Institute.

Making connections through research

Nordahl’s favorite part of her job as a scientist is working with families like Benjamin’s. “I learn so much from them. They guide my research and have taught me to focus on strengths as well as challenges. It is a privilege to have families like Benjamin and Brooke open themselves up to research. I don’t take it for granted that they are willing to let us into their lives.”

Benjamin and his family will be back at the MIND Institute in about four years for another research visit, but Benjamin wants to come back sooner.

“It was just a really fun experience,” he said.

A natural performer, he even offered to appear in videos and photos for the MIND Institute. He recently played Sebastian in his school’s production of “The Little Mermaid,” and of course, he helped to design the costume.

“I don’t think that I can say enough good things about the MIND Institute,” Myers-Awalt said. “I think that’s one of the few places where Benjamin can be 100% authentically himself and he is embraced and understood and just really is seen there. Everyone appreciates who he is and there’s no need to do any kind of masking or change who he is as a person because everyone there just gets him.”

The UC Davis MIND Institute in Sacramento, Calif. is a unique, interdisciplinary research, clinical, and education center committed to deepening scientific understanding of autism and other neurodevelopmental conditions. It is a highly collaborative center, bringing together families, researchers, clinicians, community leaders and volunteers with the common goal of developing more personalized, equitable, and scientifically proven systems of support and intervention. The institute has major research efforts in autism, fragile X syndrome, chromosome 22q11.2 deletion syndrome, attention-deficit/hyperactivity disorder (ADHD) and Down syndrome. More information about the institute and its Distinguished Lecturer Series, including previous presentations in this series, is available on the Web at https://health.ucdavis.edu/mind-institute/.

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Exposure to intense wildfire smoke during pregnancy may be linked to increased likelihood of autism

Thu, 12 Feb 2026 08:00:00 GMT

New research suggests that exposure to intense wildfire smoke during pregnancy may be associated with increased likelihood of autism in children. The study, by researchers at UC Davis Health and UCLA, was published in the journal Environment International.

Smoky air over Los Angeles from a wildfire

The study of more than 8.6 million births in California is the largest to date examining how wildfire-specific air pollution may impact early neurodevelopment. Scientists combined detailed wildfire smoke data with state birth records from 2001 to 2019. They matched these with autism diagnoses from California Department of Developmental Services through 2022.

The researchers considered the timing and intensity of wildfire smoke exposure, as well as the type of background air pollution that families usually experienced. They focused on wildfire-related PM 2.5, or tiny particles of smoke about 30 times smaller than the diameter of human hair.

High‑intensity wildfire smoke events show strongest associations

Overall, average wildfire smoke levels during pregnancy showed only weak associations with autism diagnosis. But during high‑intensity smoke events — days with particulate levels in the top 10 percent — the associations grew stronger. In regions with generally cleaner air, such as rural areas, it was most pronounced.

“The most intense wildfire smoke exposure is where we see the clearest links,” said UC Davis Health’s Rebecca J. Schmidt, senior author and professor in the Department of Public Health Sciences and the UC Davis MIND Institute. “And these intense wildfire events are becoming more common in the West.”

The researchers estimated wildfire smoke exposure for three months before, during and for one year after pregnancy. They used advanced models of particulate matter that included sources like wildfire maps, air monitors and satellites and adjusted for wind currents and geography.

They separated particulate matter from vegetation burning and from wildland urban interface sources such as homes, vehicles and other materials.

“These models help us understand not just how much smoke was in the air, but where it came from,” said Schmidt, who is also affiliated with the UC Davis Environmental Health Sciences Center.

Among the key findings:

Pregnancies in the top 10 percent of wildfire smoke exposure had a 6% higher likelihood of autism after adjusting for other kinds of air pollution.
In areas with cleaner air, known as low background pollution, the link was much stronger. In these areas, pregnancies in the top 10 percent of wildfire smoke exposure had a 50% higher likelihood of autism.
Very smoky days mattered. When wildfire smoke particles reached 35 micrograms per cubic meter or higher, a level considered very smoky, autism likelihood increased. Lower‑level smoky days did not show the same pattern.
The strongest links were seen in non‑metropolitan areas, where there is generally less pollution from traffic and industry and smoke spikes stand out more.
Smoke from wildland‑urban interface fires — where homes and buildings burn — was linked to higher autism likelihood even in large cities, possibly because these fires release more toxic particles.

David J. Segal appointed chair of Department of Biochemistry and Molecular Medicine

Wed, 04 Feb 2026 08:00:00 GMT

02/04/2026

David J. Segal appointed chair of Department of Biochemistry and Molecular Medicine

By Lisa Howard

Researcher is known for advances in gene-editing technologies used for research and therapeutic applications for rare diseases

(SACRAMENTO)

The UC Davis School of Medicine is pleased to announce the appointment of David J. Segal as chair of the Department of Biochemistry and Molecular Medicine. Segal holds appointments in the departments of Biochemistry and Molecular Medicine, Pharmacology, the UC Davis Genome Center and the UC Davis MIND Institute.

“Dr. Segal is a nationally recognized leader in genome engineering and molecular therapeutics," said Susan Murin, dean of the UC Davis School of Medicine. "He brings more than two decades of groundbreaking research, visionary program development and a deep commitment to training the next generation of scientists to his role as chair.”

Segal joined the UC Davis faculty in 2005. His work has produced foundational advances in gene-editing technologies, including ZFNs (Zinc Finger Nucleases), TALENs (Transcription Activator-Like Effector Nucleases) and CRISPR/Cas9-based platforms.

David J. Segal has been appointed chair of the Department of Biochemistry and Molecular Medicine.

Redefining what’s possible in ‘incurable’ diseases

Segal’s work is reshaping what is possible in treating neurological and genetic disorders once deemed “incurable.” He and his colleagues are developing targeted molecular tools capable of reactivating silenced genes, correcting gene dosage defects and repairing transcriptional dysfunction.

Rare genetic disorders targeted by his lab include Angelman syndrome, SYNGAP1 deficiency, ADNP syndrome, neurofibromatosis type 1, and other neurodevelopmental and neurodegenerative diseases.

“Although rare diseases are individually rare, collectively, they affect more people than cancer and AIDS combined,” Segal said. “But most have no treatments.” He notes that for him, finding cures for rare diseases is more than a scientific story.

“Working closely with the Angelman Syndrome community has allowed me to see the human side of the disease, including the tremendous need, the hopes of families and the responsibility of researchers to create therapies that can be accessible to those who need them,” Segal said. “These experiences have inspired my thinking about what we can accomplish together at UC Davis. I am excited to serve such a vibrant department in this new role.”

Dean Murin expressed gratitude to the interim chair. “We are grateful to Dr. Luis Fernando Santana for his outstanding leadership and guidance of the department as interim chair since 2021,” Murin said.

Segal has authored or co-authored more than 120 papers in peer-reviewed journals and holds 25 patents. He has received numerous prestigious grants from the National Institutes of Health (NIH), the California Institute for Regenerative Medicine (CIRM), as well as awards from foundations and nonprofits.

In addition to his appointments at the UC Davis School of Medicine, Segal is an investigator in the NIH Somatic Cell Genome Editing Consortium and field chief editor of Frontiers in Genome Editing.

Segal received a B.S. in biology with honors from Cornell University, followed by a Ph.D. in biochemistry from the University of Utah. He completed a postdoctoral fellowship in molecular biology at the Scripps Research Institute in La Jolla, Calif.

Segal served as an assistant professor in the Department of Pharmacology & Toxicology at the University of Arizona, Tucson, before joining the UC Davis faculty. He has had several leadership positions in his more than 20 years at the School of Medicine, including co-chair of the Integrative Genetics and Genomics graduate program and associate director of the UC Davis Genome Center.

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Popular MIND Institute lecture series will address ADHD, autism subtypes, disparities in care and more

Fri, 09 Jan 2026 08:00:00 GMT

The UC Davis MIND Institute will welcome nationally recognized experts in psychiatry, neuroscience and autism research as part of its Distinguished Lecturer Series this year.

A speaker presents to a crowd in an auditorium with a large screen behind them.

For more than two decades, the popular speaker series has offered free presentations on research and clinical care for individuals with neurodevelopmental disabilities.

“It’s hard to pick a talk that I’m most excited about this year,” said the MIND Institute’s David Hessl, who directs the series and is a professor in the Department of Psychiatry and Behavioral Sciences. “What I enjoy most is the opportunity to step outside the intense focus on my own research and to stay connected with where our field is moving.”

It’s also a great occasion, Hessl noted, to engage with community members, patients and families, as each lecture is followed by a Q&A session with the speaker. “My favorite part of the events is facilitating the discussions after the lectures,” he said. “It is often surprising and eye-opening to hear what the audience has to say or ask about — things I would never think to ask!”

UC Davis Health designated as a NORD Rare Disease Center of Excellence

Mon, 08 Dec 2025 08:00:00 GMT

12/08/2025

UC Davis Health designated as a NORD Rare Disease Center of Excellence

By Nadine A Yehya

Recognition is a testament to the university’s leadership in researching and treating rare diseases

(SACRAMENTO)

The National Organization for Rare Disorders (NORD) has designated UC Davis Health as a NORD Rare Disease Center of Excellence. The distinction recognizes UC Davis Health’s leadership in providing expert, multidisciplinary care and advancing research for the more than 30 million Americans living with rare diseases.

“UC Davis Health is proud to join a network of top academic and medical organizations working to advance knowledge and care for patients with rare diseases,” said Bruce Hall, the interim vice chancellor of human health sciences and chief clinical officer for UC Davis Health.

Comprehensive treatment model

UC Davis Health has a comprehensive treatment model. It offers the full spectrum, from diagnosis to novel treatment development and use.

For example, the Precision Genomic Program offers whole genome sequencing and develops new mouse models for rare genetic disorders. It works to advance precision treatments catered to a patient’s specific case.

“Our goal is to leave no patient behind,” said Suma Shankar, chief of the Genomic Medicine Division in the Department of Pediatrics and director of Precision Genomics. “We work with families to identify genetic conditions and provide them with the most advanced therapies currently available. We also find them resources to make sure they are well taken care of. It becomes a life-long relationship.”

Shankar is a professor in the Departments of Pediatrics and Ophthalmology and is affiliated with the UC Davis MIND Institute and UC Davis Children's Hospital.

Shine Arslanian was born with two rare conditions that required more than a dozen surgeries at UC Davis Health.

“We care for people of all ages, from fetal to pediatric to adult. We also study and treat all kinds of conditions that range from fragile X syndrome to rare cancers to Huntington’s disease,” said developmental and behavioral pediatrician Van Kim Ma. Shankar and Ma serve as co-directors of the UC Davis Health Center of excellence.

The Genomic Medicine division provides care 24/7 for 365 days for individuals with rare and ultrarare genetic disorders.

Our goal is to leave no patient behind.” — Suma Shankar, Chief of the Genomic Medicine Division.

Leadership in gene therapy development and clinical trials

UC Davis scientists and clinicians are at the forefront of research to help prevent, diagnose and treat rare diseases. They are pioneers in developing and testing gene and stem cell therapies for rare and inherited disorders. For example, researchers from the Stem Cell Program and UC Davis MIND Institute are leading studies to test stem cell gene therapy for Angelman syndrome, Dup15q syndrome, and ADNP syndrome.

Wang Lab at UC Davis Health is a prime research hub in stem cell therapy and gene editing.

UC Davis Health is also home to nationally recognized programs and centers that study and treat rare and ultra-rare diseases. The Gene Therapy Center, part of UC Davis Institute for Regenerative Cures, is one of the few treatment centers nationwide delivering gene therapy for patients with Duchenne muscular dystrophy.

UC Davis researchers are also leading various clinical trials — including those for rare autoimmune and respiratory diseases — and studies on rare neuromuscular diseases and KCNT1-related epilepsy. These researchers are supported by many specialized genomics clinics, including:

Autism Genomics Clinic
Metabolic and lysosomal storage disorders
Connective Tissue Disease Clinic
Genetics related and Neurological and Developmental Disorders Clinic

Andrew Rodriguez receiving an infusion of the first-ever gene therapy for treating Duchenne muscular dystrophy for pediatric patients.

The NORD Rare Disease Centers of Excellence Network

The NORD Rare Disease Centers of Excellence Network now includes 46 institutions across 28 states and Washington, D.C. These institutions work together to shorten diagnostic journeys, expand access to care, train the next generation of rare disease experts and accelerate groundbreaking research.

Through a coordinated national network, UC Davis Health is partnering with NORD and all NORD Rare Disease Centers of Excellence. The objective is to scale the model of rare disease care and research, bridging clinical and specialty expertise gaps across institutions and state lines to deliver better outcomes for patients and their families.

“NORD is proud to welcome UC Davis Health to our network of prestigious institutions driving breakthroughs and expanding the frontlines of rare disease care and research,” said Pamela K. Gavin, NORD chief executive officer. “Together, we are ensuring that everyone living with a rare disease, regardless of condition or location, can receive a timely diagnosis, access expert care and participate in cutting-edge research.”

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UC Davis launches major study on language development in children with Down syndrome

Tue, 18 Nov 2025 08:00:00 GMT

11/18/2025

UC Davis launches major study on language development in children with Down syndrome

By Marianne Russ Sharp

5-year, $5.5 million NIH-funded project aims to build a roadmap for communication support

(SACRAMENTO)

UC Davis researchers are leading a major $5.5 million study to better understand how children with Down syndrome develop expressive communication — the skills used to share what we want, think or feel.

Angela John Thurman, a professor in the Department of Psychiatry and Behavioral Sciences and the UC Davis MIND Institute, is leading the research. The five-year project is funded by a grant from the National Institutes of Health.

“Most children with Down syndrome have delays in developing expressive communication,” Thurman explained. “We know these delays are common and that children develop at different speeds, but we still don’t know enough about how their communication skills change and grow.”

The researchers will collaborate on the project with colleagues at Colorado State University, Cincinnati Children’s Hospital Medical Center, Massachusetts General Hospital and the University of Pennsylvania.

By combining these tools with rigorous research, we should be able to develop a more accurate and meaningful guide — like a roadmap specifically for children with Down syndrome.” — Angela John Thurman, professor, Department of Psychiatry and Behavioral Sciences

Finding answers to questions families often ask

Children with Down syndrome are born with an extra copy of chromosome 21. This impacts how the body and brain develop. It is often associated with characteristics such as distinctive physical features, differences in learning, and, in some cases, health-related concerns such as heart problems. Down syndrome occurs in about 1 in 700 live births and is the leading genetic cause of intellectual disability.

Thurman and her team hope to answer questions that families often ask but professionals cannot yet answer — such as when a child with Down syndrome might reach certain milestones or how early signs can predict whether extra help is needed.

“Without this kind of information, parents and professionals don’t have much to guide their decisions,” Thurman said. “That often means waiting to see how things go or using a one-size-fits-all approach.”

Combining familiar tools with rigorous research

Researchers will recruit 168 children with Down syndrome from 18 to 54 months of age to study expressive communication development. Expressive communication can include gestures, sounds, pictures, sign language or spoken words.

The team will use detailed, well-established methods to follow children’s progress. These will include interviewing parents, tracking the words and skills children use over time and analyzing recordings of children communicating. The team will check in with families every three or four months, either in person or via telehealth, to closely monitor changes as they happen.

“We’re using approaches that are familiar and useful to families and providers, like tracking developmental milestones and stages of language development,” Thurman said. “By combining these tools with rigorous research, we should be able to develop a more accurate and meaningful guide — like a roadmap specifically for children with Down syndrome.”

Understanding how these skills emerge and vary among children with Down syndrome could transform how families and providers plan interventions.

Currently, language interventions for people with Down syndrome vary widely, and research on their effectiveness is limited. Thurman noted that the guide would allow providers to shift attention toward customized support to fit each child’s needs.

“Many programs are helpful, but a key challenge is that we still struggle to know exactly how to adjust these supports to best fit each person’s unique needs,” Thurman said. “As we learn more about the different ways people with Down syndrome learn and grow, professionals will be better able to create tools and supports that are more personalized and better timed.”

The ultimate goal is to improve quality of life for children with Down syndrome by giving families and professionals the knowledge they need to support communication development in the most effective way possible. “By working closely with families, we can make sure research focuses on the questions and concerns that matter most to them,” Thurman said.

Learn more about the study.

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Does my child have ADHD or are they just an energetic kid?

Thu, 16 Oct 2025 07:00:00 GMT

10/16/2025

Does my child have ADHD or are they just an energetic kid?

(SACRAMENTO)

Attention-deficit/hyperactivity disorder (ADHD) is a neurodevelopmental condition. Studies estimate more than 11% of children in the U.S. — about 1 in 9 — have been diagnosed with ADHD at some point.

ADHD symptoms usually include inattention, distractibility, impulsiveness, and possible trouble regulating emotions. For some children this also includes a high level of activity.

You may be thinking that many kids are easily distracted and have a lot of energy. How do you know if your child has ADHD? Catrina Calub, psychologist at the UC Davis MIND Institute and the Department of Psychiatry and Behavioral Sciences gives you some signs to look for and advice for parents.

What does ADHD look like?

ADHD can look different in each child. Some children have more challenges paying attention. Others show more hyperactive and impulsive behaviors. There are three main types of ADHD:

Hyperactive-Impulsive: People with this type of ADHD often act without thinking and move around a lot.
Inattentive: People with this type of ADHD have trouble paying attention and are easily distracted.
Combined: People with this type of ADHD tend to be impulsive and hyperactive and have trouble paying attention.

Both boys and girls can have ADHD, but it can show up differently in each. Boys tend to be treated more often than girls for ADHD. They are also often diagnosed earlier. This is because they more commonly have the hyperactive or combined type of ADHD, which may show up when they’re younger. Girls are more likely to have the inattentive form of the condition, and this may not be noticed until later elementary school.

We know that ADHD traits are present in almost all children and are closely related to their developmental level. How can we determine which children actually meet the criteria for ADHD?

The answer is not always clear cut. However, the American Academy of Pediatrics, the Academy of Child and Adolescent Psychiatry, and the American Psychological Association offer guidelines to help make the right decision.

Consider the following questions when looking at a diagnosis of ADHD:

How extreme is the behavior?
How much harm or trouble does it cause?
How far outside of typical development does it fall?
How much do the behaviors affect learning?
How much do the behaviors affect relationships with family and peers?
Are the behaviors limited to certain settings, or do they occur constantly?
Are the behaviors present most of the time?

ADHD diagnosis

The diagnosis of ADHD can be made by several kinds of professionals, such as psychologists, social workers, nurse practitioners, neurologists, psychiatrists, and pediatricians. No matter who does the evaluation, they must use the official DSM-5 guidelines to decide if someone meets the criteria for ADHD. Typically, the process for diagnosis includes:

Complete medical and family history
Physical examination including assessment of hearing and vision to rule out other medical conditions that may cause symptoms similar to ADHD.
Interviews with parents and child
Behavior rating scales completed by parents and teachers
Observation of the child
Psychological assessment if there are concerns about learning (However, psychological testing is not required for a diagnosis of ADHD.)

Brain imaging techniques are used in research to understand the disorder, but they are not used as a part of standard assessment.

Learn about ADHD research studies at the MIND Institute

Medication and treatment for ADHD

Treatment for ADHD often involves the use of a stimulant or similar medication. Stimulants include medications such as methylphenidate (Ritalin) or dextroamphetamine (Adderall and Dexedrine).

There are nonstimulant medications to treat ADHD that may be used if your child experiences the following:

Side effects from stimulants
Other symptoms that contradict the use of stimulants
Other symptoms that are not addressed by the stimulants

There's not enough scientific evidence to support the use of herbal combinations, special diets and megavitamin therapies. If you're considering trying such interventions, discuss it with your child's physician. Some of these treatments may be harmful.

ADHD often occurs with autism. Learn more.

Behavioral approaches to ADHD

In addition to medication, behavioral treatment and counseling is also helpful. While medications can help reduce impulsiveness and distractibility, behavioral strategies focus on building skills. Counseling or therapy may help the child deal with features often associated with ADHD, such as depression or anxiety.

Parents can also benefit from a therapist who has experience with ADHD. Parents can learn techniques that work well with ADHD children through Parent Management Training. These can include:

Developing a reward program
Learning how to give instructions effectively
Keeping a regular schedule
Limiting over-stimulating activities
Using timers or other organizational tactics to help the child stay on task

It's important to always start with a positive reward program and then adapt it as needed depending on the child's age and level of development. It's just as important to give plenty of encouragement and clear positive feedback daily to help the child develop a good self-image.

Rewards given soon after appropriate behavior are likely to be most effective especially for children with ADHD for whom delayed rewards are less effective. For instance, it's better to give a child a reward for doing homework every night, rather than waiting for a good grade on a report card.

Learn more about a study that found a link between neighborhood conditions and ADHD

Opportunities for success for children with ADHD

The good news about ADHD is that many children can succeed, especially with the right opportunities and support. ADHD will persist into adulthood for about 60% of people who are diagnosed as children. With intervention, many have the chance to make positive use of their enthusiasm and skills to think outside the box.

Recognizing the disorder and providing treatment early may help reduce the negative outcomes of ADHD, like poor academic or job performance.

Parents and health care providers should ensure that these children are given positive reinforcement for their successes. They must also must ensure that they have opportunities that match their strengths and have the encouragement and treatment they need to reach their full potential.

For more information about seeking an ADHD assessment for your child, talk with your primary care physician. To make an appointment at UC Davis Health, call 916-734-2700 or 800-252-3456.

For children who have complex ADHD along with other co-occurring neurodevelopmental delays or conditions, the MIND Institute offers diagnostic assessments and ongoing care.

The UC Davis MIND Institute ADHD Research Lab is actively recruiting teens and adults with and without ADHD to participate in studies.

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UC Davis MIND Institute statement on acetaminophen and autism

Tue, 23 Sep 2025 07:00:00 GMT

09/23/2025

UC Davis MIND Institute statement on acetaminophen and autism

(SACRAMENTO)

The U.S. Department of Health and Human Services made a statement linking autism to the painkiller acetaminophen, commonly referred to by the brand name Tylenol. The department also recommended the use of leucovorin, also known as folinic acid, as a treatment for autism.

These are facts that we can share:

Autism has no single known cause. The latest research shows both genetics and the environment play roles.
Some studies seem like they show a link between Tylenol (acetaminophen) during pregnancy and autism, but there are other reasons that link might exist. These include similarities among family members and the reasons people took acetaminophen while pregnant.
The number of people taking acetaminophen while pregnant has stayed the same or gone down while the number of autism diagnoses has gone up. If there was a link between these, we would expect both to go up or both to go down together.
Untreated fever in pregnancy can pose serious risks to the fetus and to the mother. Acetaminophen is one of the few safe options to reduce fever during pregnancy.
Leucovorin, also known as folinic acid (a modified version of B9), is a medication that is currently prescribed to help counteract the effects of some chemotherapy drugs used to treat cancer. It has been mentioned as a potential treatment for autism, but there has not been enough scientific research to know if this could work.
More research is needed into this and other potential treatments to support autistic individuals.

The Secretary of Health and Human Services also referred to a study from the UC Davis MIND Institute on the increase in autism diagnoses. Though the MIND Institute can’t be sure what study he is referring to, it may be a 16-year-old study. The study did not indicate that autism was an epidemic, only that it was not possible to account for the total increase in diagnoses with the variables that they examined. This means they found there are many reasons we see more autism diagnoses. It was based on the best available information at the time, but the diagnostic criteria for autism have changed since the study was published.

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UC Davis scientists pioneer stem cell gene therapy for Angelman syndrome

Thu, 18 Sep 2025 07:00:00 GMT

09/18/2025

UC Davis scientists pioneer stem cell gene therapy for Angelman syndrome

By Marianne Russ Sharp

Groundbreaking research on the rare neurodevelopmental condition is funded by California’s stem cell agency

(SACRAMENTO)

UC Davis Health researchers are testing a new gene therapy that could be transformational for patients with Angelman syndrome, a rare neurodevelopmental condition. The promising treatment could reduce or even eliminate symptoms by replacing a missing protein with a functional one.

From left, Professor of Psychiatry and Behavioral Sciences Jill Silverman and Associate Professor of Internal Medicine Joseph Anderson are collaborating on the project.

The project is led by UC Davis MIND Institute neuroscientist Jill Silverman, a professor of psychiatry and behavioral sciences, and Joseph Anderson, an associate professor of internal medicine who specializes in developing stem cell gene therapies. It is funded by a $4.5 million grant from the California Institute for Regenerative Medicine (CIRM), the state’s stem cell agency.

Angelman syndrome appears in early childhood. Common features include developmental delays, intellectual disability, seizures, speech challenges and problems with movement and balance. Angelman occurs in about 1 in 15,000 live births. There is no effective treatment or cure.

Angelman syndrome is caused by the loss of functional UBE3A gene in the brain. The gene provides instructions to make a protein called ubiquitin protein ligase E3A. When this protein is missing, nervous system function is impaired.

A groundbreaking new approach for neurodevelopmental conditions

The new gene therapy involves modifying a patient’s bone marrow blood stem cells — called hematopoietic stem cells — to deliver a functional version of the gene to the brain.

These cells could potentially reverse, stop or even prevent the symptoms of Angelman syndrome.

“We use the immune system as a delivery vehicle to express and then deliver the functional form of the protein,” Anderson explained.

The therapy may require only one treatment to work.

Leveraging the patient’s own biology to deliver therapeutics is a powerful technique that can eliminate unwanted or problematic effects.

In their initial study, published in 2021, Silverman and Anderson showed that the therapy reversed the Angelman phenotype in adult mouse models and prevented it in very young mouse models. The fact that it worked in both age groups was a major breakthrough.

“Previous studies have emphasized that beyond very early in life, Angelman syndrome symptoms cannot be reversed, and our study contradicted that evidence and prior ‘dogma’ of the field,” Silverman said.

The new study is focused on the safety of the therapy, in the hopes of moving it to human clinical trials next.

“This is the first time someone has attempted to use this strategy for a neurodevelopmental condition,” Silverman explained. “Hematopoietic stem cell therapy is common for genetic lysosomal storage disorders, blood, immune and other diseases, but no one has ever done it in this area.”

From left, Silverman and Anderson in front of Aggie Square, UC Davis' Innovation District, where Silverman has a lab.

Striking the right protein balance

The therapy is designed to be precise. Too little UBE3A can cause Angelman syndrome. But too much can lead to another neurodevelopmental condition called Dup15q syndrome. The team has worked carefully to find the right balance.

“This is a Goldilocks situation,” Silverman said. “We need just the right amount of the protein — not too little, not too much.”

That is why a key part of the new research involves studying the expression of UBE3A in the treated mice.

“The FDA wants us to look at the expression of UBE3A in our treated animals to ensure we have the right balance,” Anderson explained.

Silverman added: “We are measuring behaviors and impacts that have a direct patient benefit, an under-studied area that our labs have focused on for a long time.”

A perfect pairing

Silverman has a long history of research on Angelman and Dup15q syndromes and other genetic neurodevelopmental conditions. She is part of a team at the UC Davis MIND Institute that is focused on bringing innovative treatments from the research lab to the patient’s bedside as quickly as possible.

Anderson’s expertise is in stem cell gene therapy development for diseases like HIV and Tay-Sachs disease, a genetic disorder that affects the central nervous system.

“Joe is an immunologist and virologist, while I’m a neuroscientist, but we both are translational scientists, at heart,” Silverman said. “We just want our labs’ work to help affected children.”

Hope for the future

If the current study is successful, the researchers hope to expand this gene therapy approach to other neurodevelopmental conditions, including SYNGAP1, which they have already published a promising paper about.

“If this works, it opens up a whole new world of possibilities and hope for patients and families,” Silverman said.

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Autistic children more likely to experience persistent gastrointestinal problems

Wed, 17 Sep 2025 07:00:00 GMT

Children diagnosed with autism are far more likely to experience ongoing gastrointestinal (GI) problems than their typically developing peers. That’s the finding of a new UC Davis MIND Institute study published in Autism. The research also found that these stomach and digestive issues are linked to greater challenges with sleep, communication, sensory processing and behavior.

Sick boy touching belly stomach

The study followed 475 children between the ages of 2 and 12, including 322 children with autism and 153 with typical development. Families participated in detailed physician-led interviews at multiple time points. This allowed researchers to track both the frequency and persistence of gastrointestinal symptoms throughout childhood.

The findings show that autistic children were not only more likely to report GI problems, but they were also more likely to have multiple symptoms at once. It was also more likely for these symptoms to persist over many years. Importantly, these symptoms often did not have an identified medical cause. This highlights the need for clinicians and families to pay closer attention to children’s overall health and well-being.

“The connection between autism and gut symptoms has not been fully understood. Parents often sense that their child is having digestive issues, but can’t tell what is causing them,” said Bibiana Restrepo, the lead author of the study. She is a developmental pediatrician and a professor in the Department of Pediatrics. “Our research shows that these symptoms are common, persistent, and can affect many areas of a child’s daily life. By identifying and treating them, we may be able to improve both physical comfort and developmental outcomes.”

Stomach problems beyond digestion

Researchers evaluated nine common gastrointestinal symptoms, including constipation, diarrhea, abdominal pain and bloating. While occasional digestive issues are common in all children, the study revealed striking differences between groups.

Children with autism had more GI symptoms at every age studied.
They were more likely to experience multiple GI symptoms at the same time.
Their GI symptoms were more likely to persist across childhood, rather than resolve quickly.

These symptoms were strongly associated with other health and behavioral challenges. Children with more frequent GI issues also showed higher rates of:

Sleep difficulties
Anxiety
Irritability
Communication challenges
Sensory sensitivities
Repetitive behaviors

“This is a reminder that the brain and the body are deeply connected,” said the study’s senior author Christine Wu Nordahl. Nordahl is a professor of psychiatry and behavioral sciences and directs the Autism Phenome Project at the MIND Institute. “When children are experiencing stomach pain or other GI problems, it doesn’t just affect digestion. It can influence sleep, mood, and how they interact with the world around them.”

While majority of typically developing (TD) participants never reported GI symptoms, 30% of children with autism (ASD) reported having symptoms at all three visits.

Addressing common gut issues for children with autism

Although gastrointestinal problems in autism have been reported before, this study is the first analysis of GI symptoms in autistic kids from early to middle childhood. It is also among the largest and most rigorous to track these symptoms over a decade of childhood development.

The researchers emphasize that many GI symptoms are treatable, even when they don’t have an obvious medical diagnosis. Increased awareness among clinicians, educators and families can help ensure children get the care they need.

“For parents, this study validates what many have long observed: that GI symptoms are very common in children with autism,” Restrepo said. “Clinicians should ask about these issues in routine visits, because effective treatment may help children feel better and thrive.”

The team hopes their findings will lead to greater collaboration between pediatricians, gastroenterologists and autism specialists. By addressing GI health as part of comprehensive autism care, children may gain relief from symptoms that interfere with their growth and development.

“This is not about finding a single cause,” Nordahl added. “It’s about recognizing the whole child. Supporting gastrointestinal health is one important step toward improving overall quality of life for children with autism.”

This study was funded by the National Institute of Mental Health and the UC Davis MIND Institute. It was also supported by the MIND Institute Intellectual and Developmental Disabilities Research Center.

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Program helps over 800 families navigate resources and services for autism and other conditions

Mon, 25 Jul 2022 07:00:00 GMT

07/25/2022 Updated:September 8, 2025

Program helps over 800 families navigate resources and services for autism and other conditions

By Marianne Russ Sharp

UC Davis MIND Institute’s Family Navigators offer free guidance during overwhelming time

(SACRAMENTO)

When Nicole Papp’s oldest son received an autism diagnosis several years ago, there was a steep learning curve. It was a challenge to figure out what therapies and services were available to him.

“It’s a whole new world. I had no idea where to start. I didn’t know what it meant in terms of school. I didn’t know who to call. I didn’t know anything,” explained Papp, who lives in Vacaville.

A few years later, her younger son was also diagnosed as autistic, this time at the UC Davis MIND Institute. Even though she was now very familiar with autism, finding services was still a struggle. Luckily, she was referred to the MIND Institute’s Family Navigator Program, which assists families after an autism diagnosis.

“They've been very helpful because they really, really know the process. They know what can help. And they just are very caring. I hadn't really had that before, where somebody knew what they were talking about, and they actually cared that they were talking about it with me,” said Papp, of her experience with the program.

Meeting a need for support and community

Since it launched about six years ago, the Family Navigator Program has helped more than 800 families like the Papps. It’s funded through the MIND Institute’s Center for Excellence in Developmental Disabilities and is free for families.

“It was like a ‘Field of Dreams’ — If you build it, they will come. And that’s exactly what happened to us,” said Catharine Mikitka, a former family support coordinator at the MIND Institute who helped create the program in 2018. Mikitka retired a few years ago and is thrilled at its success.

“We were hoping for 20 families our first year and we got 100, and it just grew and grew!” she exclaimed.

It’s because they’re meeting a real need, she said.

It was like a ‘Field of Dreams’ — If you build it, they will come. And that’s exactly what happened to us.” — Catharine Mikitka, former family support coordinator

It works like this: After a family receives a new diagnosis of autism or another neurodevelopmental condition at the MIND Institute, a clinician refers them to the program, and a staff member reaches out to discuss care options, resources and next steps. The assistance is sustained for several months, and the new family may also be connected with another parent who has an autistic child who can serve as a mentor, called a navigator.

“We call and talk about how they’re feeling about the diagnosis, what their support system is. We help them decide which county or regional agencies they should call, and we make sure they have phone numbers for speech therapists or other providers. It’s about connecting all those resources. It can be overwhelming without a guide,” Mikitka explained.

Erin Roseborough, a MIND Institute child life specialist, was also involved in the creation of the program. “Working in the clinic, we used to give families a resource list, but what they really needed was ongoing support, and someone to answer their questions during a stressful time. Navigators has provided that,” she said.

Ongoing community support

“The most consistent feedback we hear is about not feeling alone in this process,” said Robin Stewart, community programs coordinator for the Family Navigator Program and a licensed clinical social worker. “It’s having someone who understands what it’s like to have these complex emotions and to understand this very fragmented service system as well as help them build the community support that they need.”

In addition to the main program, families are also invited to join the Family Navigator parent support group, which meets one Friday a month, from 9 – 10:30 a.m. The group is led by parent mentors, who answer questions and share experiences. People can join at any time.

More recently, the team launched a new support group geared toward parents of adult children and teens, called PACT, which also meets monthly on Fridays, from 11:30 a.m. – 1 p.m. Both groups are open to anyone. You don’t need to be a UC Davis patient to take part, but registration is required.

The most consistent feedback we hear is about not feeling alone in this process. It’s having someone who understands what it’s like to have these complex emotions and to understand this very fragmented service system as well as help them build the community support that they need.” — Robin Stewart, licensed clinical social worker

The team also offers a support group focused on self-care for parents and caregivers, called Get Mindful. The idea came from Family Navigator participants who expressed an interest in learning strategies for self-care. The group teaches coping skills and well-being and provides an opportunity to learn and practice mindfulness strategies for stress management. It’s offered over eight weekly sessions, on Wednesdays from 1-2 p.m. There is a fee, and enrollment is required. A new session begins Oct. 1. Register here.

All of the parent support groups, as well as the mentoring offered through the program are aimed at building community.

“We’re great at research, we have great providers and clinicians, and we do a really, really good job in the building. But families leave the building and go into the real world,” Stewart explained. “The real world is messy, and it’s not as supported or safe and building that community out in the real world. Understanding of disability and acceptance of neurodiversity is so critical. It takes a community to support all of us.”

Nicole Papp said that’s the sort of support she experienced through the Family Navigator Program.

“They were very, very compassionate. My first navigator really listened to everything I had to say, and you could tell she genuinely cared what I was feeling. I never felt like a burden.”

Learn more about the Family Navigator program here. For questions about any of the Family Navigator programs, email mindfnp@health.ucdavis.edu

The generosity of donors helps the MIND Institute enhance and expand family support resources like the Family Navigator program. Donations in support of the program can be made online through our website.

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Dream team to develop in utero gene editing therapy for a rare neurological genetic disorder

Wed, 03 Sep 2025 07:00:00 GMT

Scientists from UC Davis Center for Surgical Bioengineering, the MIND Institute and UC Berkeley’s Murthy Lab are developing an in-utero gene editing technology to fix mutations causing severe neurologic conditions.

Pregnant woman holding belly with DNA strand background

Led by UC Davis Bioengineer Aijun Wang, the team will design and test a therapy targeting the UBE3A gene. Overexpression of this gene contributes to Dup15q syndrome, and its absence leads to Angelman syndrome. Both conditions are profound neurodevelopmental conditions that could co-occur with autism.

Finding a therapy for Dup15q syndrome

Dup15q syndrome affects about 1 in 5,000 individuals. It is 10 times more common in people with autism and intellectual disability. More than half of patients with Dup15q experience epilepsy.

“There is no readily available cure for Dup15q syndrome. Caring for chronically ill children with this condition places a significant emotional and financial burden on their families,” said Wang, professor of surgery and biomedical engineering. “The goal of the gene editing therapy we are developing is to one day treat Dup15q in utero so that children are born without the condition.”

Wang is the vice chair for translational research, innovation and entrepreneurship at the Department of Surgery. He co-directs the Center for Surgical Bioengineering and leads Wang Lab, a prime research hub in stem cell therapy and gene editing for early treatments of conditions such as spina bifida and Duchenne muscular dystrophy.

This new work will be funded by a 5-year $3.2 million grant from the National Institutes of Health’s National Institute of Neurological Disorders and Stroke.

Wang Lab is a prime research hub in stem cell therapy and gene editing

Early diagnosis allows for early intervention

UC Davis fetal surgeon Diana Farmer and Wang pioneered a groundbreaking spina bifida treatment by operating on developing babies in the womb.

Now, they are expanding to nanomedicine to help find treatment to babies with genetic diseases. These diseases can cause progressive loss of function, so early intervention is critical.

“We really have learned so much from our work on spina bifida about the fetal environment,” Wang explained. “Intervening early in gestation can change the disease escalation and prevent the severe consequences of the genetic mutation.”

Innovation in the delivery of the gene editing therapy

This new therapy targets neural stem and progenitor cells during a critical time in fetal development. It is an injection that uses a lipid nanoparticle (LNP) to carry Cas9 mRNA — the code to make the gene-editing enzyme. This enzyme is supposed to genetically modify the stem cells and correct the mutation. When these cells multiply and migrate to form neurons in the brain, they would carry the corrected genes.

Unlike delivery methods that use viruses to carry the gene editing therapy, this approach relies on LNPs. Wang’s lab has developed the LNP technology in collaboration with UC Berkeley professor Niren Murthy. They screened many LNP formulations until they identified the ones that minimize toxicity and optimize efficiency when introduced to a developing fetus.

“A highly innovative aspect of this work is the nonviral delivery of the therapy,” said Jill Silverman, professor in the Department of Psychiatry and Behavioral Science and the MIND Institute. “Using viruses as therapy carriers has been an issue in developing and optimizing gene therapies for trials. It sometimes can cause intense immune reactions that could prevent future use of this virus.”

MIND Institute event to spotlight path to adulthood for neurodivergent individuals

Tue, 26 Aug 2025 07:00:00 GMT

The UC Davis MIND Institute is opening its Distinguished Lecturer Series this fall with a symposium about the path from youth to adulthood for individuals with neurodevelopmental conditions.

A large group of people are gathered to watch a presentation at the UC Davis MIND Institute auditorium

The free event will take place Wednesday, Oct. 8 at the MIND Institute in Sacramento starting at 3 p.m. It is open to all. Researchers, clinicians, families and community members will gather for presentations, a panel discussion and reception. The focus areas will be education and employment.

The symposium will feature two keynote speakers:

Laura Grofer-Klinger is an associate professor in the Department of Psychiatry at the University of North Carolina. She studies how best to support individuals with neurodevelopmental conditions from young adulthood through aging. Grofer-Klinger is also the executive director of the UNC TEACCH Autism Program, a system of community regional centers.
Patrick Dwyer is a research fellow at La Trobe University in Australia. He is an autistic autism researcher whose work focuses on how autistic and neurodivergent people of all ages experience the world around them, including experiences of sensory distress and comfort.

A focus on the transition from youth to adulthood is critical, said Marjorie Solomon, a professor in the Department of Psychiatry and Behavioral Sciences who will also take part in the symposium. “The school system is a major part of the support system for autistic and neurodivergent individuals. When they graduate, they lose this structure that promotes intellectual and social development and engagement with others.”

Solomon explained that employment opportunities are key. “Work promotes well-being and life satisfaction, reduces anxiety and depression, prevents poverty and provides a sense of purpose,” she said.

Drawing on MIND Institute expertise

A panel of MIND Institute experts will also take questions from audience members. They will include:

Gayatri Mahajan, a developmental-behavioral pediatrician who leads the MIND Institute’s Transition to Adulthood Clinic. The clinic supports young people with neurodevelopmental disabilities and their families during their shift to adult health care.
Marjorie Solomon, a professor in the Department of Psychiatry and Behavioral Sciences, who researches supported employment and has clinical expertise in social skills training.
Beth Foraker, the director of Redwood SEED Scholars, a four-year, on-campus inclusive college program for individuals with intellectual disability at UC Davis. She has been an educator for over 30 years and also works in the School of Education.
Steve Ruder, who is on the team for the Transition to Adulthood Clinic, where he supports families and individuals with disabilities, particularly in areas related to high school transition, adult services and employment. He also works with businesses in the area to promote employment opportunities for individuals.

This is the second year the MIND Institute has launched the lecture series with a symposium.

Professor of Psychiatry and Behavioral Sciences David Hessl, who directs the Distinguished Lecturer Series, asks a question during the 2024 symposium event, which focused on early autism diagnosis and intervention.

Watch last year’s symposium and Distinguished Lecturer Series talks

“The format allows for deeper, richer discussion,” said David Hessl, a professor in the Department of Psychiatry and Behavioral Sciences and director of the Distinguished Lecturer Series. “That’s especially important given the diverse group of clinicians, scientists, community members and family members who will be taking part.”

Hessl noted that this year’s topic is quite meaningful. “The MIND Institute itself is now an ‘adult’ — in its mid-20s. The young children who took part in research and were seen in our clinic in those early years are now into adulthood, so this is especially fitting,” he said.

The Distinguished Lecturer Series will continue with its more traditional format starting in January 2026. More details, including lecture titles, will be shared on the series website in the near future. Speakers will include:

Jan. 14: Andrea Chronis-Tuscano, University of Maryland
Feb. 11: Sandy Magana, University of Texas at Austin
March 11: TBD
April 8: Damien Fair, University of Minnesota
May 13: Kelsey Martin, Simons Foundation

Quick facts about the Symposium

When: Wednesday, Oct. 8, 2025, 3-8 p.m., including an evening reception.

Where: UC Davis MIND Institute, 2825 50th St., Sacramento, CA, 95817

No registration required. Seating is first-come, first-served.

Event is free and open to all.

Autism, ADHD or both? Research offers new insights for clinicians

Mon, 18 Aug 2025 07:00:00 GMT

In-depth research conducted by UC Davis Health shows that a significant number of autistic children also have attention-deficit/hyperactivity disorder (ADHD). These findings underscore the need to thoroughly diagnose children when they are young to ensure they have appropriate care. The study was published in European Child and Adolescent Psychiatry.

A clinician in a white coat sits at a small table with a child who has bright red hair and is playing with a wooden toy.

“As a clinician, I see how these symptoms impact day-to-day functioning for these youth,” said Julie Schweitzer, who is a professor in the Department of Psychiatry and Behavioral Sciences and the UC Davis MIND Institute. She also directs the Attention, Impulsivity and Regulation (AIR) ADHD program and was senior author on the study. “If we’re not tuned into these issues, then they're not going to be addressed, and it could affect these young people’s success.”

Does a parent’s exposure to workplace chemicals affect autism in their children?

Fri, 08 Aug 2025 07:00:00 GMT

A new study in the International Journal of Hygiene and Environmental Health finds parents’ workplace chemical exposure may be linked to a range of behavioral challenges and developmental delays in their children with autism.

Wooden blocks show symbols for types of chemicals and other hazards.

Autism is a neurodevelopmental condition that is marked by challenges with social skills, communication struggles and repetitive behaviors. Autism traits can vary widely in how mild or strong they are.

“Past research explored the impact of environmental factors on the likelihood of a child developing autism,” said Irva Hertz-Picciotto, a co-author and professor in the Department of Public Health Sciences and the UC Davis MIND Institute.

“This study is one of the first to connect parental job exposures to the severity of their child’s autism based on the Autism Diagnostic Observation Schedule, 2nd edition" (ADOS-2),” Hertz-Picciotto said. “The ADOS-2 Calibrated Severity Score is considered the 'gold standard' diagnostic assessment of autism," Hertz-Picciotto said.

Hertz-Picciotto directs the UC Davis Environmental Health Sciences Center and has led a large autism study, CHARGE (ChildHood Autism Risks from Genes and Environment), since 2002. The CHARGE study is funded by the National Institute of Environmental Health Sciences. It includes children with autism or other developmental delays and children with typical development.

Linking parents’ chemical exposures to autism characteristics

In collaboration with the UC Davis CHARGE Study team, researchers from the National Institute for Occupational Safety and Health (NIOSH) studied data from over 500 families in the CHARGE study. They focused entirely on children already diagnosed with autism.

Industrial hygienists assessed both mothers’ and fathers’ job histories from three months before pregnancy to birth. They estimated each parent's exposure to 16 chemicals or agents. This included plastics, car fluids, disinfectants, medicines and other chemicals.

They then matched the data with the children's autism severity scores (using the ADOS-2) and their behaviors, cognitive skills and daily living skills.

Conference on neurodevelopmental disabilities for Spanish-speaking community Sept. 20

Mon, 04 Aug 2025 07:00:00 GMT

08/04/2025

Conference on neurodevelopmental disabilities for Spanish-speaking community Sept. 20

By Marianne Russ Sharp

7th annual MIND Institute event to focus on diagnoses, rights and services

(SACRAMENTO)

The seventh annual “Aprendiendo Juntos” or “Learning Together” conference will take place on Saturday, Sept. 20 at the UC Davis MIND Institute. The event is sponsored by the MIND Institute’s Center for Excellence in Developmental Disabilities and community partners. The daylong conference, delivered entirely in Spanish, is focused on empowering families through knowledge and community.

The seventh annual "Learning Together" conference, delivered entirely in Spanish, will be Sept. 20 at the UC Davis MIND Institute.

The popular event brings together professionals from the MIND Institute with agencies and organizations in the community that provide services to people with developmental disabilities. It is open to self-advocates, family members and professionals.

“The conference is an opportunity to unite as a community, meet, learn and ask the experts questions about the different areas that encompass the lives of our loved ones living with a developmental disability,” said Maribel Hernandez, a community outreach coordinator at the MIND Institute who helps to plan the conference. “This includes the school system, medical care, services and supports to navigate the systems in a caring and safe environment.”

The 2024 Spanish Conference was very well attended.

A focus on diagnoses, rights and services

This year’s theme is “Developmental Disabilities: Diagnoses, Rights and Services for the Hispanic Community.”

MIND Institute experts and community specialists will discuss the interaction between neurodevelopmental disabilities like autism and the most common mental health conditions that often occur alongside them.

Breakout sessions will include:

Naturalistic interventions to support development
Educational evaluations and IEP (individual education plan) development
A panel discussion featuring psychologists and parent leaders sharing insight and support for families at the time of diagnosis

“We’ll also talk about what to expect at a doctor’s visit, the different components of diagnosis, and the many interventions available to help improve quality of life,” Hernandez explained. “And we’ll focus on the services and laws available to support and protect people with developmental disabilities.”

In addition, the conference will include information on how to help adolescents transition to adulthood and self-care exercises to support caregivers’ well-being.

Community collaborators for the conference include:

“This conference is a standout example of deep community engagement,” said Wendy Neikirk Rhodes, executive director of Support for Families of Children with Disabilities. “It is especially notable for its focus on empowering Spanish-speaking individuals and families — communities that have long faced significant barriers to timely diagnoses, accurate information, and access to critical services. By conducting the entire event in Spanish and tailoring its content for adult learners — including parents, self-advocates, caregivers, and professionals — the MIND Institute is helping bridge those gaps.”

Developmental-behavioral pediatrician Bibiana Restrepo presenting during the 2024 Spanish Conference.

Hernandez said her favorite thing about the powerful conference is the sense of belonging.

“For Spanish-speaking families who have a loved one with a disability, there are many challenges: language, disability, perhaps financial needs and other uncertainties. This day, this conference is for them,” she said. “We offer a space for learning and help mitigate the feeling of loneliness that is common among families.”

Event details:

Saturday, Sept. 20, 8 a.m. – 3 p.m.
UC Davis MIND Institute, 2825 50^th St, Sacramento, 95817
There is a fee to attend. Learn more.
Registration required.

Registration for families

Registration for professionals

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Self-harm and autism: Hunting for clues about the challenging behavior

Fri, 01 Aug 2025 07:00:00 GMT

08/01/2025

Self-harm and autism: Hunting for clues about the challenging behavior

Autism Science Foundation grant allows researcher to study the brain mechanisms behind self-injury in profound autism

(SACRAMENTO)

Joseph Boyle is on a mission to understand one of the more challenging aspects of autism: behavior that causes self-harm. A doctoral student in developmental and quantitative psychology at UC Davis, Boyle is looking for markers in the brain that may be related to this type of behavior in autistic individuals. The work is funded by a predoctoral fellowship from the Autism Science Foundation.

From left, doctoral student Joseph Boyle and Professor Christine Wu Nordahl at the UC Davis MIND Institute

Boyle’s interest in the topic began when he was an undergraduate. He worked as a caregiver to a young non-speaking autistic boy who had difficulty communicating his needs to parents and teachers.

“A lot of the time he was trying to communicate that he was sick, or he wasn’t feeling well, or something was causing extreme discomfort. When those needs weren’t met, I often saw the onset of self-injury,” Boyle explained. “I witnessed how much of an impact it had on the whole family every day, and realized what a critical, underexplored research area self-injurious behaviors were in the context of autism.”

The experience left a lasting impression.

Profound autism

Boyle now works in the lab of Professor of Psychiatry and Behavioral Sciences Christine Wu Nordahl, who directs the Autism Phenome Project at the UC Davis MIND Institute. The project, which seeks to identify autism subtypes, is one of the largest long-term studies of its kind in the world.

Boyle’s work centers on children with profound autism. A Lancet Commission report defines this as having autism with an IQ of less than 50, and often minimally speaking or non-speaking, with round-the-clock support required. Children with profound autism are more likely to engage in self-harm.

“Self-injurious behavior can include things like self-biting, hitting yourself in the head, or against a surface or object, skin picking or eye poking, and can often lead to tissue damage” Boyle said.

A 2020 study found that the prevalence of self-injury in autism was 42%. Boyle said among Autism Phenome Project participants, it’s about 74%.

If we can find potential biomarkers in the brain that may hint that one brain structure or circuitry between brain structures are more related to self-injury, then we can start narrowing in on those regions to better understand the mechanisms that lead to these challenging behaviors. Ultimately, that knowledge could possibly guide the development of therapeutics to help reduce these behaviors and give autistic children a better and more productive life.” — Joseph Boyle, doctoral student in psychology

Searching for biomarkers linked to self-harm in autism

To better understand both the biology and the severity of self-harm in children with autism, Boyle is studying brain scans from autistic and non-autistic children 2-18 years old across five timepoints.

Joseph Boyle explains his research into self-injurious behaviors and autism at the Gatlinburg Conference in 2024.

He’s looking for clues about what may be different in the brains of autistic children who engage in self-harm.

“If we can find potential biomarkers in the brain that may hint that one brain structure or circuitry between brain structures are more related to self-injury, then we can start narrowing in on those regions to better understand the mechanisms that lead to these challenging behaviors,” Boyle explained. “Ultimately, that knowledge could possibly guide the development of therapeutics to help reduce these behaviors and give autistic children a better and more productive life.”

He’s especially interested in how different brain regions “talk” to each other. “We want to look at resting states — for example, communications between regions like the amygdala, the anterior cingulate cortex and prefrontal areas.”

The Autism Phenome Project is unique in its ability to help advance this work.

“Unlike many other neuroimaging studies, our project includes a large number of participants with intellectual disability, and about one-quarter fall into the profound autism category,” Nordahl explained. “The individualized strategies and supports that we use to obtain brain scans work well for all participants in the study, including those with profound autism. It is really important to us to ensure that our study is as inclusive as possible.”

The need for this type of research is urgent, Boyle said, because self-harm can affect not only quality of life but access to many things.

“Individuals with more self-injury and more aggression get fewer opportunities for social connections, and to learn and experience language, community and more,” he said. “And that can blunt their developmental experience.”

Nordahl agreed, noting that this is an under-researched area with a great deal of potential.

“I hope that Joseph’s work will help bring attention to this often-overlooked, but important group in the autistic community,” she said.

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$5.5 million federal grant to help researchers build tools for FXTAS treatment trials

Wed, 30 Jul 2025 07:00:00 GMT

07/30/2025

$5.5 million federal grant to help researchers build tools for FXTAS treatment trials

Project will support clinical trials to treat the genetic condition fragile X-associated tremor/ataxia syndrome

(SACRAMENTO)

UC Davis Professor of Psychiatry and Behavioral Sciences David Hessl will help lead a major research project to develop better ways to measure treatments for fragile X-associated tremor/ataxia syndrome (FXTAS). The 5-year project will be funded by a $5.5 million federal grant from the National Institute of Neurological Disorders and Stroke (NINDS).

Professor of Psychiatry and Behavioral Sciences and MIND Institute faculty member David Hessl will co-lead the new $5.5 million research project.

Hessl, a UC Davis MIND Institute faculty member, will work on the research effort with physician-scientist Peter Todd at the University of Michigan and neurologist and movement disorder specialist Deborah Hall at Rush University.

“This critical project will help us to be ready when new therapies become available to test in clinical trials,” Hessl said.

What is FXTAS?

FXTAS is one of several genetic conditions linked to changes in the FMR1 gene, located on the X chromosome. When seen under a microscope, these chromosomes can appear broken, or fragile, hence the name fragile X.

These gene changes can range from a premutation (a smaller change) to a full mutation and have a variety of health impacts.

Individuals with the full mutation have fragile X syndrome, the most common inherited cause of autism and intellectual disability. Female premutation carriers can have reproductive problems. Adult premutation carriers — mostly men over 50, may develop FXTAS. It is a progressive, neurological disorder. Symptoms include tremors, balance problems and memory issues. It is sometimes mistaken for Parkinson’s disease.

FXTAS was discovered by MIND Institute researchers nearly 25 years ago.

One of the roadblocks to testing potential treatments is a lack of widely accepted validated outcome measures for clinical trials.

“FXTAS can be devastating, and scary for carriers who are at risk for developing it. We all want to see some treatments that can provide relief for patients and their families,” Hessl said. “To know if potential therapies work, we have to do a really good job of choosing the best measures that are clinically meaningful. That’s why this project is so important.”

There are likely to be new medicines soon, including gene therapies, that could help slow down or even stop the disease. We want to be ready.” — David Hessl, professor, Department of Psychiatry and Behavioral Sciences

What the study will do

Over the next five years, the team will:

Enroll 100 people with FXTAS across the three research sites.
Use tools like electronic sensors to measure tremors and balance, brain scans to track progression or slowing of disease and memory tests to track cognitive symptoms.
Develop and test a new version of the FXTAS Rating Scale (FXTAS-RS), which helps doctors measure how the condition changes over time.
Create a shared system and protocol so future clinical trials can start quickly and run smoothly.

“There are likely to be new medicines soon, including gene therapies, that could help slow down or even stop the disease,” Hessl said. “We want to be ready.”

Guidance from FXTAS patients and their families

The study will also include feedback from an advisory panel made up of patients, premutation carriers, caregivers, doctors, researchers, people from the pharmaceutical industry, and a NINDS program scientist. Importantly, the panel will include individuals and family members affected by FXTAS, ensuring that the research stays focused on what matters most to those living with the condition.

Francisco Cordero, who carries the FMR1 premutation, will be on the advisory panel for the new research project.

Francisco Cordero, who carries the FMR1 premutation, will be one of the panel members. He lives in Mexico City and has traveled multiple times to the MIND Institute in Sacramento to take part in fragile X-related research studies.

“I think that people learning about FXTAS is so important and I want to be involved in whatever way I can,” he said.

Not all adult males with the premutation develop FXTAS, but Cordero worries that he may be showing early signs of the condition.

“I don’t know if what is happening to me is related to FXTAS or not, but I lose my balance easily. My memory is bad. My wife is very scared of what is going to happen to me and how she will take care of me if things get more serious,” he said.

Hessl said he’s grateful to Cordero and the other panel members who are stepping up to move the research forward.

“It’s essential that we have several outcome measures that patients and caregivers say are tapping into real impacts in daily life. This is something the U.S. Food and Drug Administration takes seriously when considering medications for approval,” he said.

By the end of the project, the team will have a set of accurate measures for future trials, with the protocols and systems in place to run those trials. “We’ll be ready,” said Hessl, who has worked with fragile X families for over 25 years. “These families have given so much to our research programs. I want to do everything I can to help.”

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X chromosome switch offers hope for girls with Rett syndrome

Wed, 23 Jul 2025 07:00:00 GMT

Researchers led by UC Davis Health scientist Sanchita Bhatnagar have developed a promising gene therapy that could treat Rett syndrome. The therapy works on reactivating healthy but silent genes responsible for this rare disorder and possibly other X-linked conditions, such as fragile X syndrome.

chromosome activation

Their findings were published in Nature Communications.

About Rett syndrome

Rett syndrome is a genetic condition that affects mostly girls. It is caused by a defective MECP2 gene located on the X chromosome. This gene contains instructions for the synthesis of MeCP2 protein.

Girls with Rett syndrome may have too little of this protein or their protein may not work properly. This protein deficiency can cause a range of symptoms, including loss of speech, impaired hand movements, breathing difficulties and seizures.

Silenced genes

Sanchita Bhatnagar, an associate professor with the UC Davis Department of Medical Microbiology and Immunology.

Females have two X chromosomes (XX). In each cell, one X chromosome will randomly be silenced in a process known as X chromosome inactivation (XCI). In girls with Rett syndrome, the silenced chromosome carries a healthy copy of MECP2.

“Our study looked at reactivating the silenced X chromosome carrying the healthy gene. It showed that reactivating the gene is possible and can reverse the symptoms,” said Bhatnagar, the study’s senior author.

Bhatnagar is an associate professor with the UC Davis Department of Medical Microbiology and Immunology and runs The Bhatnagar Laboratory. She is an assistant research program leader at the UC Davis Comprehensive Cancer Center and a researcher at the MIND Institute.

Sponge-like molecules to overcome microRNA’s silencing power

The new study did a genome-wide screening to identify small RNA molecules (microRNA) involved in XCI and X-linked gene silencing. It found that microRNA-106a (miR-106a) was active in switching off X chromosomes and the MECP2 gene.

The team tested if blocking miR-106a could weaken the silencing effect and “wake up” the dormant healthy gene. For that, they used a female mouse model of Rett syndrome and a gene therapy vector developed by Professor Kathrin Meyer at the Nationwide Children’s Hospital. The vector delivered a special DNA-based molecule that acts as a “sponge” by attracting miR-106a. The molecule reduces the availability of miR-106a at the X chromosome, which provides a therapeutic window for gene activation and MeCP2 production.

Impressive results

The results were very impressive: The treated mice lived longer and showed better movement and cognition than the untreated ones. The study also showed a significant improvement in the breathing irregularities of the treated mice.

“The diseased cell holds its own cure. With our technology, we are just making it aware of its ability to replace the faulty gene with a functional gene,” Bhatnagar explained. “Even a small amount of this gene expression (activation) has therapeutic benefit.”

Importantly, the Rett mouse model handled the treatment well.

“Our gene therapy-based approach targeting X chromosome silencing showed significant improvement of several symptoms of Rett syndrome,” Bhatnagar said. “Girls with Rett exhibit a wide range of symptoms, limited mobility and communication skills. They have apnea and seizures. It would be life-changing if we can help reverse some of their symptoms so they can speak if they're hungry or walk to get a drink. What if we can prevent these seizures and apnea episodes, or simply reduce them?”

Rett syndrome still has no cure. For families affected by Rett syndrome, this discovery brings some hope that a treatment could one day change lives. This approach could also work for similar conditions caused by X-linked genes.

Before moving to clinical trials, the researchers need to conduct safety studies to further evaluate the potency of the treatment and the right dosage.

For a complete list of authors, please check the article. This study was funded by Alcyone Therapeutics Inc. and the Hartwell Foundation.

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What makes the human brain distinctive?

Mon, 21 Jul 2025 07:00:00 GMT

A new study published July 21 in Cell identifies two genes linked to human brain features and provides a road map to discover many more. The research could lead to insights into the functioning and evolution of the human brain, as well as the roots of language disorders and autism.

Dr. Megan Dennis smiling to the camera.

The newly characterized genes are found among the “dark matter” of the human genome: regions of DNA that contain a lot of duplicated or repeat sequences, making them difficult to study until recently. If assembling a DNA sequence is like putting together a book from torn-up pages, reconstructing it from repeat sequences would be like trying to match pages using only words like “and” and “the.” There are many opportunities for mismatches and overlap.

Although difficult to study, DNA repeats are also thought to be important for evolution as they can generate new versions of existing genes for selection to act on.

“Historically, this has been a very challenging problem. People don’t know where to start,” said senior author Megan Dennis, associate director of genomics at the UC Davis Genome Center and associate professor in the Department of Biochemistry and Molecular Medicine and MIND Institute at the University of California, Davis.

In 2022, Dennis was a coauthor on a paper describing the first sequence of a complete human genome, known as the ‘telomere to telomere’ reference genome. This reference includes the difficult regions that had been left out of the first draft published in 2001 and is now being used to make new discoveries.

Identifying human brain genes

Dennis and colleagues used the telomere-to-telomere human genome to identify duplicated genes. Then, they sorted those for genes that are: expressed in the brain; found in all humans, based on sequences from the 1000 Genomes Project; and conserved, meaning that they did not show much variation among individuals.

They came out with about 250 candidate gene families. Of these, they picked some for further study in an animal model, the zebrafish. By both deleting genes and introducing human-duplicated genes into zebrafish, they showed that at least two of these genes might contribute to features of the human brain: one called GPR89B led to slightly bigger brain size, and another, FRMPD2B, led to altered synapse signaling.

“It’s pretty cool to think that you can use fish to test a human brain trait,” Dennis said.

The dataset in the Cell paper is intended to be a resource for the scientific community, Dennis said. It should make it easier to screen duplicated regions for mutations, for example related to language deficits or autism, that have been missed in previous genome-wide screening.

“It opens up new areas,” Dennis said.

The work was supported in part by grants from the National Institutes of Health, National Science Foundation and The Wellcome Trust.

UC Davis experts call for greater physician awareness and screening of fragile X-related conditions

Thu, 17 Jul 2025 07:00:00 GMT

07/17/2025

UC Davis experts call for greater physician awareness and screening of fragile X-related conditions

By Marianne Russ Sharp

Paper published in New England Journal of Medicine recommends testing for specific groups

(SACRAMENTO)

UC Davis MIND Institute researchers Randi and Paul Hagerman are calling for increased awareness and screening for fragile X-associated conditions. In a new paper published in the New England Journal of Medicine, the husband-and-wife physician-scientists note that the group of genetic conditions is still not widely recognized by health care providers, despite decades of research.

From left, Paul and Randi Hagerman outside the UC Davis MIND Institute in Sacramento.

In the paper, the Hagermans note that anyone with a diagnosis of autism or intellectual disability should be screened for fragile X. “Unfortunately, this isn’t happening consistently, even though it’s recommended by the leading medical organizations,” said Distinguished Professor Randi Hagerman, a developmental-behavioral pediatrician and MIND Institute founding medical director. “It’s a simple blood test, is usually covered by insurance or Medicaid/Medi-Cal and is absolutely necessary for these conditions.”

What is fragile X?

This group of genetic conditions is linked to changes in a gene called FMR1, located on the X chromosome. These changes range from a premutation (a smaller change) to a full mutation, with different health impacts.

The most well-known is fragile X syndrome, which is caused by the full mutation. It’s the most common inherited cause of intellectual disability and autism and affects learning, development and behavior.

“Despite the importance of fragile X syndrome, a remarkable number of physicians are unaware of its existence,” explained Distinguished Professor Paul Hagerman, who is in the Department of Biochemistry and Molecular Medicine.

Fragile X syndrome is more common in males than females. Additional characteristics can include social anxiety, sensory and sleep challenges, large ears and a long face and speech and language delays.

There are millions of people who have no idea that they carry the premutation.” — Randi Hagerman, distinguished professor, Department of Pediatrics

FXTAS, FXPOI and other fragile X-associated conditions

People with the premutation are considered carriers of fragile X.

“One in 150-200 women and 1 in 300-400 men in the general population are carriers of mutated forms of the gene,” Paul Hagerman said. Randi Hagerman added, “There are millions of people who have no idea that they carry the premutation.”

While many show no symptoms, some may develop health conditions later in life. These include:

Fragile X-associated Tremor/Ataxia Syndrome (FXTAS): A neurological disorder that usually appears after age 50, especially in men. It causes tremors, balance problems, memory issues and sometimes symptoms similar to Parkinson’s disease. The Hagermans and their research teams discovered FXTAS at the MIND Institute in 2001 after realizing that many family members of fragile X syndrome patients had similar symptoms.
Fragile X-associated Primary Ovarian Insufficiency (FXPOI): A condition affecting some women with the premutation, leading to irregular periods, early menopause and fertility challenges.
Other Emerging Conditions: Researchers are also studying additional health conditions linked to the premutation, including anxiety, depression and autoimmune issues.

The Hagermans recommend in the paper that upon a fragile X syndrome diagnosis, providers get a full medical history of the family tree. Females with the premutation have a 50% chance of passing the mutation to each of their children. Males with the premutation will pass it to all of their daughters (and none of their sons).

The pair note that often the fragile X syndrome diagnosis leads to other diagnoses of related conditions for additional family members. “It spans generations,” Randi Hagerman said.

FXTAS can also look a lot like other disorders, which makes screening important, said Paul Hagerman. “When testing is done, older adults often find out that a prior diagnosis of Alzheimer’s or Parkinson’s may actually be FXTAS.”

The development of gene therapy approaches is proceeding at an incredibly rapid pace. I am most hopeful for targeted therapies for the fragile X family of conditions in the very near future.” — Paul Hagerman, distinguished professor, Department of Biochemistry and Molecular Medicine

Hope for treatments

There are no treatments specifically approved for fragile X syndrome, but the Hagermans note that several treatments have shown some promise. These include a cannabidiol gel and zatolmilast, a medication that showed improvement in language and daily function in a small trial. It is being tested in both adults and children.

Metformin, a traditional diabetes treatment, is also being tested to treat fragile X syndrome. “It’s showing efficacy, particularly in children, and we’ll be publishing research about that before the end of the year,” Randi Hagerman said.

The MIND Institute has been a testing site for all three treatments.

What most excites Paul Hagerman is gene therapy, his area of study. “The development of gene therapy approaches is proceeding at an incredibly rapid pace. I am most hopeful for targeted therapies for the fragile X family of conditions in the very near future.”

Learn more about fragile X research and how to make an appointment at the UC Davis MIND Institute.

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Best Buddies interns celebrate graduation after completing inaugural program

Wed, 02 Jul 2025 07:00:00 GMT

UC Davis Health recently celebrated the graduation of its first Best Buddies Project SEARCH internship cohort during a joyful ceremony held Friday, June 27. The nine-month internship, which began in the fall of 2024, provides young adults with intellectual and developmental disabilities the opportunity to gain hands-on work experience in a health care setting.

A group of people holding certificates pose in front of a large panel that reads "Best Buddies"

Graduates marked the milestone with friends, family, supervisors and program leaders. The celebration included refreshments, certificate presentations, group photos, and heartfelt remarks from interns about the personal and professional growth they experienced during the program.

James Rice, manager of Patient Support Services and one of the department leaders who hosted interns, was among those in attendance. In a video produced by Best Buddies International, he emphasized the impact of the collaboration with Best Buddies:

"We share the same mission, vision and values in providing quality service and care to the community and having a diverse workforce," Rice said. He explained that the interns have the possibility of future fulltime employment and they also receive job training.

Program leaders said that the internship has significantly bolstered hospital operations, advanced goals for a more inclusive workplace, and fostered a positive atmosphere across UC Davis Health.

Throughout the internship, participants rotated through roles in departments such as Distribution, Radiology, Guest Relations, Patient Support Services, Plant Operations and Maintenance, and more. Each day combined classroom learning in the morning with real-world job training in the afternoon, all with the goal of preparing interns for long-term employment.

The next Best Buddies Project SEARCH cohort begins Aug. 4.

UC Davis program for students with intellectual disabilities graduates first class of students

Thu, 12 Jun 2025 07:00:00 GMT

06/12/2025

UC Davis program for students with intellectual disabilities graduates first class of students

By Marianne Russ Sharp

‘I’m emotional and I’m proud’: Redwood SEED Scholars celebrate graduation, jobs and independence

UC Davis’ first-in-California inclusive college program for individuals with intellectual disabilities is celebrating a momentous milestone. The first class of Redwood SEED Scholars has graduated from the four-year, non-degree program.

From left, Chancellor Gary S. May looks on as Vice Chancellor for Diversity, Equity and Inclusion Renetta Garrison Tull shakes hands with scholar Rachel Holt at the graduation on June 7. Also pictured are Dean of Continuing and Professional Education Julie Greenwood, Director of Access Programs at Continuing and Professional Education Jake Hosier, Distinguished Professor Emeritus of Psychiatry and Behavioral Sciences and former MIND Institute Director Leonard Abbeduto and Redwood SEED Employment Director Maddi Hinchey.

“It’s all sorts of emotions, and hard to believe,” said Olivia Adams-Falconer, one of the eight graduates. “I’ve made so many memories, and I loved the program. It’s been completely life-changing.”

Redwood SEED is managed by UC Davis Continuing and Professional Education, the Office of Diversity, Equity and Inclusion and the UC Davis MIND Institute. Scholars live on campus and take specialized core classes and traditional college courses. About 170 mentors help them with academics, social skills, health and wellness and more.

The graduating scholars celebrate at the ceremony on June 7 at UC Davis.

At a recent graduation ceremony, scholars proudly wore UC Davis blue caps and gowns and forest green stoles created by a mentor that featured embroidered redwood trees. They received their credentials, which were approved by Continuing and Professional Education, in front of family and friends.

UC Davis Chancellor Gary S. May, Vice Chancellor for Diversity, Equity and Inclusion Renetta Garrison Tull and Dean of the Division of Continuing and Professional Education Julie Greenwood took part in the ceremony. Director of Access Programs at Continuing and Professional Education Jake Hosier, Distinguished Professor Emeritus of Psychiatry and Behavioral Sciences and former MIND Institute director Leonard Abbeduto and Redwood SEED Employment Director Maddi Hinchey also shook hands with the scholars as they walked to receive their credentials.

“It’s a big, big day,” said scholar Cristina Riegos. “I’m emotional and I’m proud.”

Scholar Cristina Riegos receives her credentials at the graduation ceremony June 7.

Education builds confidence

“Watching them get so excited for academic learning has been so rewarding,” said Redwood SEED Director Beth Foraker.

Dru Cullison, the literacy instructor for the program, shared that the academic growth the scholars accomplished went far beyond what she expected.

From left, Redwood SEED Employment Director Maddi Hinchey, Academic Director Sarah Barnes and Director Beth Foraker at the graduation ceremony on June 7.

“At the beginning, some scholars said they didn’t really read much. But they did the hard work,” she explained. “They’ve come a long way and are taking lessons learned and applying them to their lives. They’re showing the world what they can do and breaking down those barriers for themselves. We’ve talked all four years about how they’re the ones making the path for the ones behind them.”

There are 27 departments on campus that have welcomed Redwood SEED Scholars into their classes alongside traditional students. Scholars have taken African American Studies, Military Science, Human Development, Drama and more.

“I took a Korean history class because I’m Korean and I wanted to learn something about my own culture,” explained scholar Karis Chun. She also took a Greek Mythology class. “It was something I never thought I would take, but it was fun!”

Scholar Kai Gardizi’s favorite course was one on the history of rock and roll. “I am going to miss that the most,” he said.

It’s not just the scholars, but the other UC Davis students, the professors, the workplaces, the community that’s been impacted, and it keeps rippling. That’s the dream, because what we’re really trying to build is a whole community of belonging, and that’s happening in Davis.” — Beth Foraker, director, Redwood SEED Scholars

Jobs, independence and bright futures

Key goals of the program are employment and independent living, and most of this year’s graduates already have jobs lined up — many in places they worked during the program.

Olivia Adams-Falconer and the other scholars gathered to decorate their caps for graduation.

Chun and Adams-Falconer will return as mentors — members of the Redwood SEED team supporting other scholars. Adams-Falconer has also been hired to continue working in the mail room of the Chemistry Department, where she’s been employed this year.

“UC Davis has done a beautiful job of working with the program and working with the scholars to build a job that they can be successful in,” Foraker said, adding that the program is a model for other universities and businesses.

“To have UC Davis understanding the value that they bring to the workplace tells you that a lot of workplaces are hungry for this opportunity if it’s customized, intentional and with good support built in,” she said.

In fact, several other universities are working with Redwood SEED to try to replicate the program on their campuses.

Scholar Abeer Humayun will continue her work at the UC Davis Scientific Store and Microscope Services after graduation.

“I really like it. I enjoy being independent, talking to my co-workers and working to earn money,” she said.

From left, scholar Cristina Riegos, Associate Professor Nicole Sparapani and scholar Sophie Howarth at the graduation ceremony on June 7.

Another scholar, Sophie Howarth, will continue to work in the lab of Associate Professor Nicole Sparapani, a researcher in the Department of Education and the MIND Institute. Howarth will also be a co-author on a research paper about relationship education for adolescents and adults with disabilities.

“It’s actually really fun,” Howarth said, noting that she enjoyed talking with Sparapani about the research.

“Sophie is an asset to our team,” Sparapani said. “Her contributions are important, and her energy is contagious.”

Gardizi hopes to work at the Gap in San Francisco, which he describes as his “main dream.” He has been working in a new position created by the Gap and the Redwood SEED Scholars program in Vacaville.

Kai Gardizi shows off his decorated cap.

About three-quarters of the scholars plan to stay in Davis. Some will be roommates. They’ll live, work, shop and socialize in the community. Foraker said that’s the transformative power of inclusive college.

“It’s not just the scholars, but the other UC Davis students, the professors, the workplaces, the community that’s been impacted, and it keeps rippling. That’s the dream, because what we’re really trying to build is a whole community of belonging, and that’s happening in Davis,” she said.

For some students, graduating from a UC Davis program was especially poignant. One scholar was joined by his uncle — who is an alumnus of the school — at the ceremony.

Adams-Falconer’s brother graduated from UC Davis more than a decade ago and she had always dreamed of attending the school.

Abeer Humayun, known among her classmates for being very creative, decorated her graduation cap beautifully.

“I’m guessing that he’s really proud of me graduating from here. Since he was the first alumni, now I’m going to be the second alumni, so I find that pretty cool,” she said.

She has advice for other individuals with intellectual disability who are also dreaming big:

“Anything is possible. If anyone has a disability and if they want to go to college — do it! It’s quite amazing.”

About Redwood SEED Scholars

Redwood SEED Scholars is a four-year, on-campus, non-degree program for California students with a diagnosed intellectual disability. It is funded through a U.S. Department of Education grant. Vice Chancellor for Diversity, Equity and Inclusion Renetta Garrison Tull and Distinguished Professor Emeritus Leonard Abbeduto of the MIND Institute are co-principal investigators on the grant.

Scholar Karis Chun receives her credential at the graduation ceremony on June 7.

The California Department of Rehabilitation supports the scholars with tuition, transportation and technology. The program is also a vendor with the state of California regional center system, which funds room and board in many cases.

Twelve scholars are accepted each year through an extensive application process. The next application period opens Oct. 1.

Learn more about applying.

Frequently asked questions about the Redwood SEED Scholars.

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Registration open for 2025 Summer Institute on Neurodevelopmental Disabilities

Wed, 21 May 2025 07:00:00 GMT

05/21/2025

Registration open for 2025 Summer Institute on Neurodevelopmental Disabilities

By Marianne Russ Sharp

Daylong conference features families and experts who share research and resources on autism, ADHD, fragile X syndrome, Down syndrome and more

(SACRAMENTO)

Registration is now open for the UC Davis MIND Institute’s 24th annual Summer Institute on Neurodevelopmental Disabilities. The one-day conference on July 25 will bring together researchers, health care providers, individuals with disabilities and their families, community members and students, among others.

The MIND Institute’s Center for Excellence in Developmental Disabilities hosts the annual event, with help from community partners. This year’s theme, “Bridging Science and Real Lives,” highlights the connection between research and everyday experiences.

“We are thrilled about the focus of this year’s event, linking research to practical strategies for neurodevelopmental disabilities,” said Amber Fitzgerald, co-coordinator of the event and director of education initiatives at the MIND Institute. “It’s a fantastic opportunity to engage with diverse individuals, co-presenting and sharing insights, and fostering meaningful collaboration.”

The event will take place from 8 a.m.- 4 p.m. at the Scottish Rite Masonic Center, 6151 H St. in Sacramento.

Leading-edge research and practical resources

A MIND Institute employee talks with attendees and shares resources at the 2024 Summer Institute on Neurodevelopmental Disabilities.

The conference will open with keynote presentations on leading-edge research from three MIND Institute faculty members:

Randi Hagerman, distinguished professor in the Department of Pediatrics and world-renowned expert in fragile X-associated conditions
Rebecca Schmidt, assistant professor in the Department of Public Health Sciences and molecular epidemiologist who studies the impact of environmental factors on development
Julie Schweitzer, professor in the Department of Psychiatry and Behavioral Sciences and licensed psychologist and an expert in ADHD

Another highlight will be a “Voices of Autism” panel, where autistic individuals and family members will discuss how to create more inclusive communities, based on their lived experiences.

Attendees can also choose from six interactive workshops on these topics:

Language development and communication in individuals with Down syndrome
Evidence-based practices for autism
Resources for caregivers
Inclusive life planning
Advances in fragile X treatments
Executive function strategies for ADHD

These sessions are designed to provide practical tools and the latest information, including research from top MIND Institute experts.

A group of experts, self-advocates and family members take part in a panel discussion at the 2024 Summer Institute on Neurodevelopmental Disabilities.

“The Summer Institute provides a dynamic environment for community members to share and learn together,” said Kelly Heung, co-coordinator of the event and associate director of the LEND training program at the MIND Institute. “Whether you’re a professional, an advocate, or someone with lived experience, everyone will gain valuable insights that are practical and inspirational.”

Registration is now open. Early bird discounts of 10% are available through June 1. Fees vary depending on attendee type and include breakfast, lunch and digital resources. Continuing education credits are also available for health care professionals.

Learn more about Summer Institute and register for the event.

Event Details:

What: Summer Institute on Neurodevelopmental Disabilities

Where: Scottish Rite Masonic Center, 6151 H St., Sacramento

When: Wednesday, July 25, 8 a.m. – 4 p.m.

Cost: Check website for the different pricing structures. Some attendees may qualify for regional center funding.

Early Bird Special: Register by June 1 to get 10% off.

Deadline: Final registration deadline is July 14.

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New internship helps neurodivergent individuals work toward jobs in medical coding

Wed, 14 May 2025 07:00:00 GMT

05/14/2025

New internship helps neurodivergent individuals work toward jobs in medical coding

By Liam Connolly

Paid internship at UC Davis Health is specifically designed for individuals with autism

(SACRAMENTO)

Internships traditionally help trainees build professional networks, enhance resumes, and gain practical experience in a specific field.

Sean Mini’s internship with UC Davis Health has meant much more — it has been life changing.

Mini is the first intern to take part in the UC Davis Neurodiversity Internship Program. The small pilot program is a paid medical coding internship specifically designed for neurodivergent individuals, such as those with autism.

Medical coding is the process of translating health care diagnoses, procedures, medical services, and equipment into standardized codes. They ensure providers are reimbursed properly and help track public health trends.

“I've always been interested in puzzles,” shared Mini. “To me, coding sounded like putting together a puzzle and that's why I was interested in learning more about it.”

Sean Mini is the first intern to take part in the UC Davis Neurodiversity Internship Program.

Internship structure

The one-year internship is broken into two phases. The first is a self-paced study portion that lasts about 12 weeks. During this time, interns complete a series of modules and have weekly check-ins with Dannette Regina Hollinger. She is a professional and outpatient patient record abstractor, a subject matter expert who serves as auditor for the program.

“Growing up I had a tough time with communicating — I would not talk much or ask questions because I didn't know how to ask them,” shared Mini. “I’m still finding ways to do better, but working closely with the team has helped me develop more confidence to speak up and be part of the conversation.”

During the second phase, interns begin coding cases in the electronic health records system and use a real encoder. Hollinger works directly with them to ensure accuracy and compliance in medical coding. This real-time experience allows interns to get familiar with the workflow and receive feedback. This way, they develop their skills while maintaining high standards of quality.

“Sean's level of attention to detail and his willingness to learn has been really refreshing,” said Kimberley Hubbard, inpatient analyst and clinical documentation specialist at UC Davis Health. She manages the UC Davis Neurodiversity Internship. “He has met or exceeded the standards of 85% in all of his modules, which is something many trainees don't achieve.”

Mini’s job coach Elaine Hobday agrees that he is thriving in his internship.

“I have seen incredible growth from Sean,” she said. “He is opening up and utilizing his skills to learn and grow in this position.”

The perfect fit

The UC Davis Neurodiversity Internship Program was created by Tami McMasters Gomez, director of coding and CDI program at UC Davis Health.

“Being neurodivergent myself, I am passionate about making sure neurodivergent individuals are represented in the workforce and I saw a gap in the industry,” explained McMasters Gomez. “It occurred to me that coding met the needs of many neurodivergent individuals.”

Neurodivergent adults often face unique challenges when finding and staying in a job. These difficulties can include challenges with interpersonal communication and sensitivity to noise or light.

Sean Mini is close to testing for his introductory coding credential.

“Although many people assume that autistic and other neurodivergent adults aren’t able to work, the fit between Sean and the coding program is the perfect illustration that this isn’t true,” shared Marjorie Solomon a professor in the Department of Psychiatry and Behavioral Sciences and the MIND Institute. “The important thing is finding a job that fits the skills, abilities, and interests of the autistic person and their specific needs in the workforce setting.”

Solomon founded the ACCESS Program at the MIND Institute, which focuses on empowering neurodivergent adults with life coping skills, planning abilities and social skills. In particular, the program enables participants to access various opportunities in social, work or educational, and community settings.

“Working provides all individuals with a sense of purpose, a place to go every day, and new persons to interact with,” added Solomon. “These are the roots of well-being and life satisfaction.”

Need for medical coders

More than ever, health care systems need coders. Across the nation there is a 30% shortage in medical coders, according to the American Medical Association (AMA).

Medical coding is the process of translating healthcare diagnoses, procedures, medical services, and equipment into standardized codes.

“There is a gap in the workforce, we need more coders to support how much the health care industry has grown over the last few years,” shared McMasters-Gomez, who has worked in medical coding at UC Davis Health since 1997.

The AMA also notes the coding industry reflects an aging population.

“We have many senior coders who have been in this profession who are retiring and we're not seeing the same interest in this space with the up-and-coming generations,” explained McMasters Gomez. “This internship is just another way we can provide a pathway for new talent and support the national shortage in coding.”

A promising future

As Mini enters the final month of his internship, he is now preparing to sit for his introductory coding credential.

“Sean has set a high standard for future interns in this program,” Hubbard declared.

The Neurodiversity Internship Program is preparing to hire two new interns for the program after Mini completes his internship. Program leaders are also working with other health care systems to see if they can replicate the internship.

“Our goal is to grow this program to support as many people as possible in the neurodiverse space that might otherwise not have an opportunity,” added McMasters Gomez.

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UC Davis researchers lead innovative work on KCNT1-related epilepsy

Fri, 28 Feb 2025 08:00:00 GMT

02/28/2025

UC Davis researchers lead innovative work on KCNT1-related epilepsy

By Marianne Russ Sharp

Jill Silverman and Sarah Olguin use new technology to give families hope

(SACRAMENTO)

A UC Davis postdoctoral researcher and her mentor have received two key funding boosts to advance their leading-edge work into the rare neurodevelopmental condition KCNT1-related epilepsy.

From left, Postdoctoral Scholar Sarah Olguin and her mentor, Professor Jill Silverman.

Sarah Olguin received a two-year, $100,000 fellowship from the Hartwell Foundation, a prestigious honor for early-career researchers.

She and her mentor, Professor Jill Silverman, were also chosen for a $68,667 pilot grant from the KCNT1 Epilepsy Foundation as part of the Penn Medicine Orphan Disease Center’s Million Dollar Bike Ride campaign.

Olguin and Silverman are both in the Department of Psychiatry and Behavioral Sciences and the UC Davis MIND Institute. Silverman is known worldwide for her groundbreaking work with rodent models.

What is KCNT1-related epilepsy?

KCNT1 is a gene which regulates potassium channels in the brain. In children with KCNT1-related epilepsy, the channels are more open than they should be, which allows more ions to get through, leading to seizures and epilepsy.

The condition causes drug-resistant seizures — sometimes hundreds in a day — that affect key brain development. Children may be unable to walk, talk or eat without a feeding tube. Intellectual disability is common, and life expectancy is limited.

KCNT1-related epilepsy is rare. According to the KCNT1 Epilepsy Foundation, roughly 3,000 cases have been identified globally so far. But the foundation notes that there are likely far more people affected, as testing is still not widespread.

The work being done by Olguin and Silverman on a KCNT1 mouse model holds significant promise for these families.

“This research grant is part of our mission to address critical knowledge gaps, foster innovation and bring hope to children and families with this rare and debilitating condition,” said Sarah Drislane, executive director of the KCNT1 Epilepsy Foundation.

A focus on common brain circuits to speed progress

Sarah Olguin presents her work at the 2024 International Behavioral Neuroscience Society conference.

Olguin pursued neuroscience in part to better understand her father’s Parkinson’s disease. “I was really interested in learning more about the brain and how it works, as well as genetics,” she explained.

She received her Ph.D. in biomedical sciences at the University of New Mexico. There, Olguin used EEG, a test to measure electrical activity in the brain, paired with a touchscreen technology in a prenatal alcohol exposure model. She studied attention and reward learning.

At the MIND Institute, she and Silverman have built on that work in the Silverman lab by using EEG to study seizures, sleep cycles and related brain activity in a KCNT1 mouse model. The model, created in collaboration with University of Missouri researchers, includes a gene variant that hasn’t been studied before.

The variant is critical because it is linked to two more severe types of KCNT1-related epilepsy: Early Infantile Migrating Seizures and Autosomal Dominant Frontal Lobe Nocturnal Epilepsy.

Olguin’s work focuses on seizures caused by fevers early in life. She wants to find out if these types of seizures increase the likelihood or severity of later seizures.

“Using this funding, Sarah and I will study behavior and EEG recordings in mice to answer this question and hopefully generate prime outcome measures to assess future treatments,” Silverman said. “Pilot grants like this are critical to collect data that can lead to more significant funding and advances.”

Olguin and Silverman hope to identify biomarkers — specific brain waves — that correlate with certain stimuli.

“We call these sensory-evoked potentials — specific events in the EEG that correspond to a visual stimulus like a flashing light or a specific audio tone,” Olguin explained. “If you repeat the same tone over and over, you get a very specific brain wave in the EEG. This can differ depending on whether you are typically developing or have a neurodevelopmental condition.”

Olguin also looks at differences in the brain between sleep and wakefulness. One thing that makes her work unique is that she studies brain circuits that are identical in mice and humans.

“My goal would be to get brain activity that is exactly the same in a mouse as in a human; then we should be able to target therapeutics for mice and humans.”

This would dramatically speed up the testing process for new potential interventions.

‘A natural born leader’

“Sarah is a natural-born leader,” Silverman said. “By increasing the number of translational, reliable, functional outcome measures in our wheelhouse, she is helping to create more opportunities for identifying and advancing successful medical interventions. This is Sarah’s talent.”

From left, Olguin and Silverman at 2024 the International Behavioral Neuroscience Society conference.

Silverman shared that Olguin has a “thing” for office supplies, a sign of her “top-tier” organizational skills.

“As a mother of two and researcher, it goes without saying that Sarah is an outstanding multitasker! She is as vibrant as her everchanging but always identifiable pink hair,” Silverman said.

Olguin’s work represents the Silverman lab’s first official study on KCNT1, but Silverman and her team have worked on several other rare conditions. These include groundbreaking research into two other neurodevelopmental conditions: Angelman syndrome and SYNGAP 1-related syndrome.

Before winning the Hartwell fellowship, Olguin was a trainee in the MIND Institute’s Autism Research Training Program. Funded by the National Institutes of Health, the two-year program merges the behavioral and biological sciences. The goal is to train autism researchers across disciplines.

Olguin said her experience in the program cemented her commitment to the field of neurodevelopmental conditions. Interactions with patient families and foundations, she shared, have been very rewarding.

“The parents are so involved, not only in the everyday of what their kids are doing, but they’re also advocating so much for the benefit of their children and the children in their community,” Olguin said. “It’s not just about them, and it’s fantastic to see.”

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