Daniel Cohn, PhD

Co-Director, International Skeletal Dysplasia Registry, Medical Genetics
Email:dan.cohn@cshs.org
Phone:310-423-2880
Fax:(310) 423-0620

Academic Appointments

Professor, Pediatrics

Research Focus

Molecular genetics of the skeletal dysplasias, inherited disorders that result from abnormalties in skeletal development, linear growth, and homeostasis of skeletal structures. The laboratory identifies the molecular basis of these disorders and the functions of the gene products using bioinformatics,biochemical approaches and mouse models.

Research Contributions

Determined the molecular basis of a variety of skeletal dysplasias using molecular genetic approaches.

Current investigations include:

Identity by descent mapping in recessive skeletal disorders. Microarray studies of cartilage-selective gene expression. Mouse models for selected skeletal dysplasias.

Selected Publications

  1. Rock MJ, Prenen J, Funari VA, Funari TL, Merriman B, Nelson SF, Lachman RS, Wilcox WR, Reyno S, Quadrelli R, Vaglio A, Owsianik G, Janssens A, Voets T, Ikegawa S, Nagai T, Rimoin DL, Nilius B, Cohn DH: Gain-of-function mutations in TRPV4 cause autosomal dominant brachyolmia. Nat. Genet., , 2008
  2. Baldridge D, Schwarze U, Morello R, Lennington J, Bertin TK, Pace JM, Pepin MG, Weis M, Eyre DR, Walsh J, Lambert D, Green A, Robinson H, Michelson M, Houge G, Lindman C, Martin J, Ward J, Lemyre E, Mitchell JJ, Krakow D, Rimoin DL, Cohn DH, Byers PH, Lee B: CRTAP and LEPRE1 mutations in recessive osteogenesis imperfecta. Hum. Mutat., , 2008
  3. Funari VA, Day A, Krakow D, Cohn ZA, Chen Z, Nelson SF, Cohn DH: Cartilage-selective genes identified in genome-scale analysis of non-cartilage and cartilage gene expression. BMC Genomics, 8: 165, 2007
  4. Farrington-Rock C, Kirilova V, Dillard-Telm L, Borowsky AD, Chalk S, Rock MJ, Cohn DH, Krakow D: Disruption of the Flnb gene in mice phenocopies the human disease spondylocarpotarsal synostosis syndrome. Hum. Mol. Genet., 17(5): 631-41, 2007
  5. Pogue R, Ehtesham N, Repetto GM, Carrero-Valenzuela R, de Casella CB, de Pons SP, Martínez-Frías ML, Heuertz S, Cormier-Daire V, Cohn DH: Probable identity-by-descent for a mutation in the Dyggve-Melchior-Clausen/Smith-McCort dysplasia (Dymeclin) gene among patients from Guam, Chile, Argentina, and Spain. Am. J. Med. Genet. A, 138(1): 75-8, 2005
  6. Krakow D, Robertson SP, King LM, Morgan T, Sebald ET, Bertolotto C, Wachsmann-Hogiu S, Acuna D, Shapiro SS, Takafuta T, Aftimos S, Kim CA, Firth H, Steiner CE, Cormier-Daire V, Superti-Furga A, Bonafe L, Graham JM, Grix A, Bacino CA, Allanson J, Bialer MG, Lachman RS, Rimoin DL, Cohn DH: Mutations in the gene encoding filamin B disrupt vertebral segmentation, joint formation and skeletogenesis. Nat. Genet., 36(4): 405-10, 2004
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