University of California San Francisco | About UCSF | UCSF Benioff Children's Hospital
Search Site | Find a Doctor
Print this page
FONT SIZE
Home > Doctors > Katherine A. Rauen

Katherine A. Rauen, M.D., Ph.D., M.S.

Medical geneticist

Dr. Katherine Rauen is a medical geneticist and director of the NF/Ras Pathway Genetics Clinic, which she founded in 2007. She is a leader in studying Ras/MAPK pathway genetics syndromes and coined the term "RASopathies." Ras/MAPK is the regulation of cell growth, critical to normal development.

Rauen is internationally known for her pioneering work in array comparative genomic hybridization (CGH), a technique to analyze genes. She studies cancer syndromes to identify underlying genetic abnormalities and cancer "pathways." She led a research team that discovered the genetic cause of cardio-facio-cutaneous syndrome (CSFC), a condition that affects many parts of the body, particularly the heart, facial features, and skin and hair. She serves on the medical advisory board of CFC International and is a co-director of the Costello Syndrome Family Network. Rauen earned a master's degree in Human Physiology and a doctorate in Genetics at the University of California, Davis. She earned a medical degree at the University of California, Irvine, and completed residency training in Pediatrics and a fellowship in Medical Genetics at UCSF. She is a UCSF associate professor in Medical Genetics in Pediatrics as well as in Obstetrics, Gynecology and Reproductive Sciences. She is associate director of the UCSF Medical Genetics Residency Program.

Clinics

General Genetics Clinic
400 Parnassus Ave., Second Floor
San Francisco, CA 94143
Phone: (415) 476-2757
Fax: (415) 476-9305

Hours: Tuesday and Thursday mornings (except first Tuesday of the month which is an all-day clinic)

Neurometabolic Clinic
400 Parnassus Ave., 2nd Floor
San Francisco, CA 94143-0748
Phone: (415) 476-9997
Fax: (415) 476-9976

Hours: Monday to Friday
8 a.m. – 5 p.m.

NF/Ras Pathway Clinic
400 Parnassus Ave., Second Floor
San Francisco, CA 94143
Phone: (415) 476-2757
Fax: (415) 476-9305

More about Katherine A. Rauen

Education

UC Davis, doctorate degree, Genetics 1992
UC Irvine School of Medicine 1995

Residencies

UCSF Medical Center, Pediatrics 1997

Fellowships

UCSF Medical Center, Medical Genetics 2000

Selected Research and Publications

  1. Glaser TS, Rauen KA, Jeng LJ, de Alba Campomanes AG. Lipodermoid in a patient with Emanuel syndrome. J AAPOS. 2013 Apr; 17(2):211-3.
  2. Ortiz MV, Skoda-Smith S, Rauen KA, Allan RW, Slayton WB. Juvenile myelomonocytic leukemia in a 16-year-old with Noonan syndrome: case report. J Pediatr Hematol Oncol. 2012 Oct; 34(7):569-72.
  3. Stevenson DA, Allen S, Tidyman WE, Carey JC, Viskochil DH, Stevens A, Hanson H, Sheng X, Thompson BA, Okumura MJ, Reinker K, Johnson B, Rauen KA. Peripheral muscle weakness in RASopathies. Muscle Nerve. 2012 Sep; 46(3):394-9.
  4. Huang B, Pearle P, Rauen KA, Cotter PD. Supernumerary marker chromosomes derived from chromosome 6: cytogenetic, molecular cytogenetic, and array CGH characterization. Am J Med Genet A. 2012 Jul; 158A(7):1568-73.
  5. Siegel DH, Mann JA, Krol AL, Rauen KA. Dermatological phenotype in Costello syndrome: consequences of Ras dysregulation in development. Br J Dermatol. 2012 Mar; 166(3):601-7.
  6. Anastasaki C, Rauen KA, Patton EE. Continual low-level MEK inhibition ameliorates cardio-facio-cutaneous phenotypes in zebrafish. Dis Model Mech. 2012 Jul; 5(4):546-52.
  7. Sanford EF, Bermudez-Wagner K, Jeng LJ, Rauen KA, Slavotinek AM. Congenital diaphragmatic hernia in Smith-Magenis syndrome: a possible locus at chromosome 17p11.2. Am J Med Genet A. 2011 Nov; 155A(11):2816-20.
  8. Wat MJ, Veenma D, Hogue J, Holder AM, Yu Z, Wat JJ, Hanchard N, Shchelochkov OA, Fernandes CJ, Johnson A, Lally KP, Slavotinek A, Danhaive O, Schaible T, Cheung SW, Rauen KA, Tonk VS, Tibboel D, de Klein A, Scott DA. Genomic alterations that contribute to the development of isolated and non-isolated congenital diaphragmatic hernia. J Med Genet. 2011 May; 48(5):299-307.
  9. Champion KJ, Bunag C, Estep AL, Jones JR, Bolt CH, Rogers RC, Rauen KA, Everman DB. Germline mutation in BRAF codon 600 is compatible with human development: de novo p.V600G mutation identified in a patient with CFC syndrome. Clin Genet. 2011 May; 79(5):468-74.
  10. Tidyman WE, Lee HS, Rauen KA. Skeletal muscle pathology in Costello and cardio-facio-cutaneous syndromes: developmental consequences of germline Ras/MAPK activation on myogenesis. Am J Med Genet C Semin Med Genet. 2011 May 15; 157(2):104-14.
  11. Rauen KA, Banerjee A, Bishop WR, Lauchle JO, McCormick F, McMahon M, Melese T, Munster PN, Nadaf S, Packer RJ, Sebolt-Leopold J, Viskochil DH. Costello and cardio-facio-cutaneous syndromes: Moving toward clinical trials in RASopathies. Am J Med Genet C Semin Med Genet. 2011 May 15; 157(2):136-46.
  12. Lin AE, Alexander ME, Colan SD, Kerr B, Rauen KA, Noonan J, Baffa J, Hopkins E, Sol-Church K, Limongelli G, Digilio MC, Marino B, Innes AM, Aoki Y, Silberbach M, Delrue MA, White SM, Hamilton RM, O'Connor W, Grossfeld PD, Smoot LB, Padera RF, Gripp KW. Clinical, pathological, and molecular analyses of cardiovascular abnormalities in Costello syndrome: a Ras/MAPK pathway syndrome. Am J Med Genet A. 2011 Mar; 155A(3):486-507.
  13. Siegel DH, McKenzie J, Frieden IJ, Rauen KA. Dermatological findings in 61 mutation-positive individuals with cardiofaciocutaneous syndrome. Br J Dermatol. 2011 Mar; 164(3):521-9.
  14. Rauen KA, Tidyman WE, Estep AL, Sampath S, Peltier HM, Bale SJ, Lacassie Y. Molecular and functional analysis of a novel MEK2 mutation in cardio-facio-cutaneous syndrome: transmission through four generations. Am J Med Genet A. 2010 Apr; 152A(4):807-14.
  15. Pierpont EI, Pierpont ME, Mendelsohn NJ, Roberts AE, Tworog-Dube E, Rauen KA, Seidenberg MS. Effects of germline mutations in the Ras/MAPK signaling pathway on adaptive behavior: cardiofaciocutaneous syndrome and Noonan syndrome. Am J Med Genet A. 2010 Mar; 152A(3):591-600.
  16. Kissil JL, Blakeley JO, Ferner RE, Huson SM, Kalamarides M, Mautner VF, McCormick F, Morrison H, Packer R, Ramesh V, Ratner N, Rauen KA, Stevenson DA, Hunter-Schaedle K, North K. What's new in neurofibromatosis? Proceedings from the 2009 NF Conference: new frontiers. Am J Med Genet A. 2010 Feb; 152A(2):269-83.
  17. Tidyman WE, Rauen KA. Mutational and functional analysis in human Ras/MAP kinase genetic syndromes. Methods Mol Biol. 2010; 661:433-47.
  18. Rauen KA, Schoyer L, McCormick F, Lin AE, Allanson JE, Stevenson DA, Gripp KW, Neri G, Carey JC, Legius E, Tartaglia M, Schubbert S, Roberts AE, Gelb BD, Shannon K, Gutmann DH, McMahon M, Guerra C, Fagin JA, Yu B, Aoki Y, Neel BG, Balmain A, Drake RR, Nolan GP, Zenker M, Bollag G, Sebolt-Leopold J, Gibbs JB, Silva AJ, Patton EE, Viskochil DH, Kieran MW, Korf BR, Hagerman RJ, Packer RJ, Melese T. Proceedings from the 2009 genetic syndromes of the Ras/MAPK pathway: From bedside to bench and back. Am J Med Genet A. 2010 Jan; 152A(1):4-24.
  19. Tidyman WE, Rauen KA. The RASopathies: developmental syndromes of Ras/MAPK pathway dysregulation. Curr Opin Genet Dev. 2009 Jun; 19(3):230-6.
  20. Anastasaki C, Estep AL, Marais R, Rauen KA, Patton EE. Kinase-activating and kinase-impaired cardio-facio-cutaneous syndrome alleles have activity during zebrafish development and are sensitive to small molecule inhibitors. Hum Mol Genet. 2009 Jul 15; 18(14):2543-54.

Publications are derived from MEDLINE/PubMed and provided by UCSF Profiles, a service of the Clinical & Translational Science Institute (CTSI) at UCSF. Researchers can make corrections and additions by logging on to UCSF Profiles.

Home • Terms of Use • Site Map • Contact Us       © 2002 - 2013 The Regents of The University of California