Katherine A. Rauen, MD, PhD

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Additional Websites

• Physician Referral Directory

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Education

California State University, Bakersfield, 1981, B.S., Biology
University of California, Davis, 1986, M.S., Physiology
University of California, Davis, 1992, Ph.D., Genetics
University of California, Irvine, 1995, M.D., Medicine
University of California, San Francisco, 1997, Resident, Pediatrics
University of California, San Francisco, 2000, Fellow, Medical Genetics

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Professional Experience

• 1979-1981
  Laboratory Assistant, California State University, Bakersfield
• 1980
  Research Assistant, LAC/USC Medical Center, LA, CA
• 1982
  Research Assistant, SRI International, Menlo Park, CA
• 1982-1984
  Staff Research Associate I, University of California, Davis
• 1986-1989
  Staff Research Associate I, University of California, Davis
• 2000-2001
  Adjunct Instructor, University of California, San Francisco
• 2001-2002
  Medical Research Consultant, ONYX Pharmaceuticals, Richmond, CA
• 2001-2007
  Assistant Adjunct Professor, University of California, San Francisco
• 2002-present
  Cancer Center Member, University of California, San Francisco Comprehensive Cancer Center
• 2004-present
  Adjunct Clinical Instructor, Stanford University, Palo Alto, CA
• 2004-2007
  Medical Director, DNA Direct, San Francisco, CA
• 2005-present
  Institute Human Genetics Member, University of California, San Francisco UCSF Center
• 2005-present
  Member, DECIPHER- Sanger Institute
• 2005-
  CFC International Medical Advisor
• 2006-
  Costello Syndrome Family Network Co-Medical Director
• 2007-
  DNA Direct, San Francisco, CA, Medical Advisor
• 2007-
  UCSF AFP Program Director
• 2007-
  UCSF PDC, CA Genetic Disease Branch Director
• 2007-
  UCSF, Department of Pediatrics, Associate Adjunct Professor
• 2007-
  UCSF, Department of OB/Gyn and RS Associate Adjunct Professor
• 2007-
  Pacific Reproductive Services, Medical Consultant
• 2007-
  UCSF Institute for Regeneration Medicine, Member
• 2008-
  CTSA Pediatrics Oversight Committee, Member
• 2008-
  NIH Rare Disease Workgroup Member

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Honors & Awards

• 1980
  Bank of America Honorary Scholarship, California State University, Bakersfield
• 1981
  Magna Cum Laude, California State University, Bakersfield
• 1983
  Pacific Egg and Poultry Scholarship, UC Davis
• 1987
  Pacific Egg and Poultry Scholarship, UC Davis
• 1989
  Hubbard Farms Scholarship, UC Davis
• 1990
  Jastro-Shields Graduate Research Scholarship, UC Davis
• 1991
  Jastro-Shields Graduate Research Scholarship, UC Davis
• 1993
  Medical Student American Cancer Society Research Grant, UC Irvine
• 1995
  Gustave D. Suffin, M.D. Award, Outstanding Senior in Clinical Medicine, UC Irvine
• 2007
  Costello Syndrome Family Network Award of Dedication

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Selected 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.
   View on PubMed
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.
   View on PubMed
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.
   View on PubMed
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.
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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.
   View on PubMed
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.
   View on PubMed
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.
   View on PubMed
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.
   View on PubMed
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.
   View on PubMed
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.
    View on PubMed
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.
    View on PubMed
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.
    View on PubMed
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.
    View on PubMed
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.
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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.
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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.
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17. Tidyman WE, Rauen KA. Mutational and functional analysis in human Ras/MAP kinase genetic syndromes. Methods Mol Biol. 2010; 661:433-47.
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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.
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19. Tidyman WE, Rauen KA. The RASopathies: developmental syndromes of Ras/MAPK pathway dysregulation. Curr Opin Genet Dev. 2009 Jun; 19(3):230-6.
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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.
    View on PubMed

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