Katherine A. Rauen, M.D., Ph.D.
Professor Emeritus, Division of Genomic Medicine, Department of Pediatrics
Katherine A. Rauen is not currently accepting new patients. For assistance finding a UC Davis doctor, please call 800-2-UCDAVIS (800-282-3284).
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Philosophy of Care
Dr. Rauen is committed to academic medicine, medical education, and advancing best practices for patients with RASopathies. She is the innovator of the world-renowned NF/Ras Pathway Clinic which she initiated in 2007 and this clinic has now been emulated around the globe. She Chairs the annual UC Davis Human Genomics Symposium and the UC Davis Human Genomics Seminar Series. She serves on the medical advisory board of CFC International, is a Co-Director for the Costello Syndrome Family Network, and serves on the advocacy advisory broad for RASopathies Network USA and Global Genes.
Research/Academic Interests
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.
Division
Genomic Medicine
Center/Program Affiliation
UC Davis Children's Hospital
UC Davis MIND Institute
Genome Center
Undergraduate School
B.S., Biology, California State University, Bakersfield, Bakersfield CA 1981
Medical School
M.D., UC Irvine College of Medicine, Irvine CA 1995
Other School
M.S. Physiology, UC Davis, Davis CA 1986
Other School
Ph.D., Genetics, UC Davis, Davis CA 1992
Internship
Pediatrics, UC San Francisco, San Francisco CA 1995-1996
Residency
Pediatrics, UC San Francisco, San Francisco CA 1996-1997
Fellowship
Medical Genetics, UC San Francisco, San Francisco CA 1997-2000
CFC International Award for Advancement in Treatment, 2022
Presidential Early Career Awards for Scientists and Engineers (2012), 2013
CFC International Award of Appreciation, 2010
Gustave D. Suffin, M.D. Award, Outstanding Senior in Clinical Medicine, UC Irvine, 1995
Jastro-Shields Graduate Research Scholarship, UC Davis, 1991
Rauen KA. Defining RASopathy. Disease Models and Mechanism. 2022 Feb 1;15(2):dmm049344. doi:10.1242/dmm.049344. Epub 2022 Feb 1. PMID:35103797.
Tidyman WE, Goodwin AF, Maeda Y, Klein OD, Rauen KA. MEK-inhibitor-mediated rescue of skeletal myopathy caused by activating Hras mutation in a Costello syndrome mouse model. Dis Model Mech. 2022 Feb 1;15(2):dmm049166. doi:10.1242/dmm.049166. Epub 2021 Nov 19. PMID:34553752.
Maeda Y, Tidyman WE, Ander BP, Pritchard CA, Rauen KA. Ras/MAPK dysregulation in development causes a skeletal myopathy in an activating BrafL597V mouse model for cardio-facio-cutaneous syndrome. Dev Dyn. 2021 Aug;250(8):1074-1095. doi:10.1002/dvdy.309. Epub 2021 Feb 13. PMID:33522658.
Rauen KA, Maeda Y, Egense A, Tidyman WE. Familial cardio-facio-cutaneous syndrome: Vertical transmission of the BRAF p.G464R pathogenic variant and review of the literature. Am J Med Genet A. 2021 Feb;185(2):469-475. doi:10.1002/ajmg.a.61995. Epub 2020 Dec 4. PMID:33274568.
Castel P, Rauen KA, McCormick F. The duality of human oncoproteins: drivers of cancer and congenital disorders. Nat Rev Cancer. 2020 Jul;20(7):383-397. doi:10.1038/s41568-020-0256-z. Epub 2020 Apr 27. PMID:32341551.
Gripp KW, Morse LA, Axelrad M, Chatfield KC, Chidekel A, Dobyns W, Doyle D, Kerr B, Lin AE, Schwartz DD, Sibbles BJ, Siegel D, Shankar SP, Stevenson DA, Thacker MM, Weaver KN, White SM, Rauen KA. Costello syndrome: Clinical phenotype, genotype, and management guidelines. Am J Med Genet A. 2019 Sep;179(9):1725-1744. doi:10.1002/ajmg.a.61270. Epub 2019 Jun 20. PMID:31222966.
Tidyman WE, Rauen KA. Pathogenetics of the RASopathies. Hum Mol Genet. 2016 Oct 1;25(R2):R123-R132. doi:10.1093/hmg/ddw191. Epub 2016 Jul 12. PMID:27412009.
Tidyman WE, Rauen KA. The RASopathies: developmental syndromes of Ras/MAPK pathway dysregulation. Curr Opin Genet Dev. 2009 Jun;19(3):230-6. doi:10.1016/j.gde.2009.04.001. Epub 2009 May 19. PMID:19467855.
Rodriguez-Viciana P, Tetsu O, Tidyman WE, Estep AL, Conger BA, Cruz MS, McCormick F, Rauen KA. Germline mutations in genes within the MAPK pathway cause cardio-facio-cutaneous syndrome. Science. 2006 Mar 3;311(5765):1287-90. doi:10.1126/science.1124642. Epub 2006 Jan 26. PMID:16439621.
Rauen KA. The RASopathies. Annu Rev Genomics Hum Genet. 2013;14:355-69. doi:10.1146/annurev-genom-091212-153523. Epub 2013 Jul 15. PMID:23875798.