Pediatric Genomic Medicine Research Team | Research | Department of Pediatrics | UC Davis Health

Faria Ahmed is a licensed and board certified genetic counselor who works with pediatric and adult patient populations and their families who are at risk for, or have been diagnosed with a genetic condition. She provides counseling in the Medical Genetics Clinic at the the UC Davis MIND Institute. Faria takes a special interest in initiatives that foster the diversity of the field of genetic counseling, and promote women in STEM.

Publications:

• PubMed

Dr. Beleford's research program within the Department of Pediatrics and Department of Physiology and Membrane Biology studies the molecular genetic causes of vascular anomalies - disorders of arterial, venous, and lymphatic development. Dr. Beleford's group is interested in genetic modifiers of rare vascular conditions such as Hereditary Hemorrhagic Telangiectasia and in clarifying molecular signals and interactions that cause vascular disease. The lab utilizes mouse disease modeling and basic molecular biology techniques.

Research Laboratories:

• Beleford Lab

Publications:

• PubMed

Colette's primary aims are to collaborate with families to help them understand their genetic information, address their concerns and questions, and to enable them to make informed decisions about their health. Colette enjoys providing education on genetic conditions, connecting families to resources such as disorder oriented support groups or registries, up to date medical literature, and clinical trials or research groups.

Publications:

• PubMed

Alena Egense is a licensed and board certified pediatric and adult genetic counselor who works with individuals who have a personal or family history of a genetic condition or are at risk of a genetic condition. She has interests in ocular, neuromuscular and metabolic genetics. In addition to her role in the Medical Genetics clinic, Alena serves as the lead genetic counselor for the Ocular Genomics clinic and is part of the metabolic newborn screen follow-up team at UC Davis. Outside of her clinical role at UC Davis, Alena enjoys working with families and other professionals through her position on the Clinical Advisory Board in the Cornelia de Lange Syndrome (CdLS) Foundation.

Publications:

• PubMed

Dr. Herman is a medical geneticist, seeing both pediatric and adult patients with known, suspected, or family histories of genetic conditions. She has a special clinical interest and expertise in genetic connective tissue disorders, skeletal dysplasias, and genetic cardiovascular conditions.

Publications:

• PubMed

Dr. Higa is participating in research efforts to better understand CNKSR2-related neurodevelopmental disorder, a rare condition characterized by seizures, apraxia and developmental delay in males.

Publications:

• PubMed

Dr. Madelena Martin's research interests are General Genetics and Biochemical Genetics.

Publications:

• PubMed

Dr. Rauen is internationally known for her pioneering work in the early application of microarray technology in clinical genetics and as a leader and major contributor to the understanding of the “RASopathies”, a termed she coined to describe the genetic syndromes of the RAS/MAPK pathway. Her research program involves the clinical translational study of cancer syndromes with effort to identify underlying genetic abnormalities affecting common developmental and cancer pathways. Dr. Rauen led the research team, including the CFC International Family Support Group that discovered the genetic cause of cardio-facio-cutaneous syndrome (CFC) and independently identified the genetic cause of Costello syndrome (CS). Along with understanding the basic biochemical alteration of germline mutation in the genes BRAF and MEK1/2, Dr. Rauen most recently defined a novel skeletal myopathy in patients with CS and CFC. Dr. Rauen’s research addresses the cellular mechanisms that mediate myogenesis and its dysregulation using mouse models for CS and CFC.

Publications:

• PubMed

Dr. Shankar serves as the director of precision genomic program and holds the Children's Miracle Network Endowed Chair in Pediatric Genetics at the MIND Institute. She is a fellow of the Royal College of Surgeons, Edinburgh, UK and is board certified in Medical Genetics from the American College of Medical Genetics. She holds a Ph.D. in Molecular Biology from University of Iowa. The mission of UC Davis Precision Genomics program is to provide personalized health care and facilitate precision medicine practice using state-of-the-art whole genome sequencing to determine the underlying genetic etiology in patients with complex neurodevelopmental disorders. Further, she collaborates with Mouse Biology Program in developing animal models to perform functional studies and develop means for translational research. She serves as editor for Genetics in Medicine, Journal of American College of Genetics and Genomics. She is very interested in advancing genomic education and involved in dedicated teaching of medical students, graduate students, residents and fellows.

Publications:

• PubMed

Dr. Shen's research and academic interests center around the molecular basis of various genetic diseases, the genetics care of underserved populations, and many other general clinical genetics topics. He will be using model and experimental systems to study uncharacterized neurodevelopmental and seizure disorders.

Publications:

• PubMed

Ayaka Suzuki is the lead genetic counselor in the Metabolic Clinic and the Lysosomal Storage Diseases Clinic, providing dedicated care to patients and their families experiencing a known or suspected biochemical disorder. She is one of the coordinators for the California Newborn Screening Program with the UC Davis Metabolic Center. She is also part of the core team for the UC Davis Health Leukodystrophy Care Network, which is one of the LCN Certified Centers in the nation. It is her mission to support the strengths and help relieve the challenges each patient and their family may experience on their journey through diagnosis and with the condition.

Publications:

• PubMed