Integrated Genetics & Genomics Graduate Seminar Series: "The RASopathies: Genetic Syndromes of the RAS/MAPK Pathway"

Katherine A. Rauen, MD, PhD, Professor Emeritus University of California, Davis, Department of Pediatrics, Division of Genomic Medicine, UC Davis MIND Institute, presents ""The RASopathies: Genetic Syndromes of the RAS/MAPK Pathway".

Katherine (Kate) Rauen, M.D., Ph.D. is Professor Emeritus in the Department of Pediatrics, Division of Genomic Medicine at the UC Davis. She received a Master’s of Science in Human 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 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 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-faciocutaneous 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 myopathy in patients with CS and CFC. There are numerous intracellular signaling pathways, including the Ras pathway, involved in normal muscle development. Dr. Rauen’s research addresses the cellular mechanisms that mediate myogenesis and its dysregulation using mouse models for CS and CFC. The results of these studies have provided new insight into the mechanisms of muscle development and disease, as well as revealed new targets for therapeutic intervention.

Host: Lisa Makhoul (lmakhoul@ucdavis.edu)