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David H. Viskochil, MD, PhD Professor

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• University of North Carolina, Chapel Hill - M.D.

• University of North Carolina, Chapel Hill - Ph.D. Biochemistry

• University of Arizona - B.S.

• University of Utah - Pediatric Internship and Residency

• University of Utah - Clinical Genetics Fellowship, Division of Medical Genetics

• American Board of Pediatrics

• American Board of Medical Genetics, Clinical Genetics

• Professor Division of Medical Genetics/Dept. of Pediatrics - University of Utah School of Medicine

• Dept. of Defense/U.S. Army Medical Research Acquisition Activity, DAMD NF96003 Analysis of Phenotypic Variability in Neurofibromatosis Type 1 (NF1).

• Department of Defense/US Army Medical Research Gene Structure and Somatic Mutation Analysis of Neurofibromatosis Type 1

• National Neurofibromatosis Foundation Biochemical and Mutation Analysis of Segmental NF

• Clinical Investigator Award Molecular Genetics of NF1

• Rocky Mountain Center for the Biology of Development Structure/Function Analysis of NF1 Mutations

• Evidence of increased bone resorption in neurofibromatosistype 1 using pyridinium crosslink analysis.
  Stevenson D, Schwarz E, Viskochil D, Moyer-Mileur L, Murray M, Firth S, D'Astous J, Carey J, Pasquali M
  Pediatr Res 63 (697-701)

• Brain anomalies in encephalocraniocutaneous lipomatosis.
  Moog U, Jones, Viskochil D, Verloes A, Van Allen M, Dobyns W
  Am J Med Genet A 143A (2963-2972)

• The use of anterolateral bowing of the lower leg in the diagnostic criteria for neurofibromatosis type 1.
  Stevenson DA, Viskochil DH, Schorry EK, Crawford AH, D'Astous J, Murray KA, Friedman JM, Armstrong L, Carey JC
  Genet Med 9(7) 409-12

• The MPS I registry: design, methodology, and early findings of a global disease registry for monitoring patients with Mucopolysaccharidosis Type I.
  Pastores G, Arn P, Beck M, Clarke J, Guffon N, Kaplan P, Muenzer J, Norato D, Shapiro E, Thomas J, Viskochil D, Wraith J
  Mol Genet Metab 91 37-47

• Neurofibromatosis type 1 is a genetic skeletal disorder.
  Stevenson DA, Viskochil DH, Carey JC
  Am J Med Genet A 143(17) 2082-3

The Viskochil laboratory devotes its efforts to research projects pertaining to neurofibromatosis type 1, an autosomal dominant condition affecting 1 in 3500 children and adults worldwide. Since working with one of the research teams that initially cloned and characterized the gene headed by Dr. Ray White at the University of Utah, the laboratory has pursued molecular studies to define the tumor suppressor role of the NF1 gene product, neurofibromin. Presently, the laboratory is studying NF1-related peripheral nerve sheath tumors (PNSTs) for consistent genetic changes that contribute to tumorigenesis, and the laboratory is assessing intratumor heterogeneity and common somatic mutations that may lead to malignant transformation of PNSTs and the natural history of plexiform neurofibromas by volumetric MRI.