Pediatric Genomic Medicine Research
Faculty
Faria Ahmed, M.S., L.C.G.C.
Leigh Ann Aki Higa, PhD, M.S. L.C.G.C.
Colette DeFilippo, M.S., L.C.G.C.
Alena Egense, M.S., L.C.G.C.
Kristin Herman, M.D.
Madelena Martin, M.D.
Katherine Rauen, M.D., Ph.D. - PubMed
Katherine (Kate) Rauen, M.D., Ph.D. is a Professor in the Department of Pediatrics, Division of Genomic Medicine at UC Davis where she currently serves as the Chief of Genomic Medicine. She received a M.S. in Physiology and a Ph.D. in Genetics from UC Davis doing research on gene dosage compensation and genetic evolution. She obtained her M.D. at UC Irvine where she also did research in cancer genetics. Dr. Rauen did her residency training in Pediatrics and fellowship in Medical Genetics at UC San Francisco.
Dr. Rauen is internationally known for her pioneering work in the application of array CGH in clinical genetics and as a leader and major contributor to the understanding of the “RASopathies”, the Ras/MAPK pathway genetics syndromes. Her research program involves the clinical and basic science 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. She serves on the medical advisory board of CFC International and is a Co-Director for the Costello Syndrome Family Network.
Dr. Rauen is committed to academic medicine, medical education, and advancing best practices for patients with RASopathies. She has successfully obtained both intramural and extramural funding for her research activities. In her current research, the goal is to understand how myogenesis is affected by Ras/MAPK dysregulation, as well as the specific mechanism of action underlying this effect. She is examining novel germline mutations identified in the RASopathies to help understand how Ras dysregulation affects muscle development. The overarching goal is to utilize the results derived from these experiments to evaluate the effectiveness of rationally chosen inhibitors to correct the developmental effects of a dysregulated Ras pathway using in vitro and in vivo models of myogenesis.
Dr. Rauen has been awarded the Presidential Early Career Award for Scientists and Engineers (PECASE), the highest honor bestowed by the United States Government on science and engineering professionals in the early stages of their independent research careers.
Suma P. Shankar, M.D., Ph.D., F.A.C.M.G.
Joseph Shen, M.D., Ph.D.
Joseph Shen, M.D., Ph.D., is in the Department of Pediatrics, Division of Genomic Medicine at UC Davis as an Associate Clinical Professor. He has broad interests and publications throughout the genetics field including in molecular genetics, clinical genetics, inborn errors of metabolism, genetic counseling (especially in underserved populations), dysmorphology, and laboratory genetics variant interpretation. His research interests as a faculty member at UC Davis and the MIND Institute is focused on CNKSR2-related neurodevelopmental and seizure disorder.