Daniel Cohn, PhD

Co-director, International Skeletal Dysplasia Registry

Research Interests

  • Short-rib Polydactyly and the Skeletal Ciliopathies

  • Genomics Core, Pathogenesis of Novel Forms of Osteogenesis Imperfecta

  • Exome Sequencing in the Skeletal Dysplasias

  • Unraveling the Mechanisms of Prenatal-onset Disorders Affecting the Skeleton

  • Molecular Studies in the Skeletal Dysplasias


Postdoctoral Degree

  • Human Genetics, University of Washington, 1983-88

Doctoral Degree

  • PhD, Marine Biology, Scripps Institution of Oceanography, UCSD, 1977-83


  • BA, Aquatic Biology, University of California, Santa Barbara, 1975-77

Undergraduate Studies

  • Biology, University of California, San Diego, 1973-75


  • Member, American Society of Human Genetics

  • Member, American Society for Bone and Mineral Research

  • Molecular Diagnostics Certification, American Board of Medical Genetics

Awards and Recognition

  • Winnick Family Clinical Scholar’s Award, 2003

  • Cedars-Sinai Medical Center President’s Award, 1996

  • Cedars-Sinai Research Institute Young Investigator Award, 1993

  • NIH Individual National Research Award, Molecular Basis of Osteogenesis Imperfecta

  • Eckhart Prize, Outstanding Thesis in Oceanography, Scripps Institution of Oceanography, 1983

  • Martin Kamen Award, Outstanding Thesis in Biochemistry, UC San Diego, 1983

  • Phi Beta Kappa, UC Santa Barbara, 1977

  • Magna Cum Laude, UC Santa Barbara, 1977

  • Outstanding Graduating Senior in Biology, UC Santa Barbara, 1977

Research and 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 40:999-1003, 2008. PMCID: PMC3525077

  2. Krakow D, Vriens J, Camacho N, Luong P, Deixler H, Funari TL, Bacino CA, Irons MB, Holm IA, Sadler L, Okenfuss EB, Janssens A, Voets T, Rimoin DL, Lachman RS, Nilius B, Cohn DH. Mutations in the gene encoding the calcium-permeable ion channel TRPV4 produce spondylometaphyseal dysplasia, Kozlowski type and metatropic dysplasia. Am J Hum Genet 84:307-315, 2009. PMCID: PMC2667978

  3. Camacho N, Krakow D, Johnykutty S, Katzman PJ, Pepkowitz S, Vriens J, Nilius B, Boyce BF, Cohn DH. Dominant TRPV4 mutations in nonlethal and lethal metatropic dysplasia. Am J Med Genet A 152A:1169-1177, 2010. PMCID: PMC4169191

  4. Weinstein MM, Tompson SW, Chen Y, Lee B, Cohn DH. Mice expressing mutant Trpv4 recapitulate the human TRPV4 disorders. J Bone Miner Res 29:1815-1822, 2014. PMCID: PMC4108531

  5. Krakow D, Sebald ET, Pogue R, Rimoin LP, King LM, Cohn DH. Analysis of clones from a human cartilage cDNA library provides insight into chondrocyte gene expression and identifies novel candidate genes for the osteochondrodysplasias. Mol Genet Metab 79:34-32, 2003. PMID 12765844

  6. Pogue RP, Sebald E, King L, Kronstadt E, Krakow D, Cohn DH. A transcriptional profile of human fetal cartilage. Matrix Biol 23:299-307, 2004. PMID 15464362

  7. Funari VA, Day A, Krakow D, Cohn ZA, Chen Z, Nelson SF and Cohn DH. Cartilage-selective genes identified in a genome-scale analysis of non-cartilage and cartilage gene expression. BMC Genomics 8:165, 2007. PMCID: PMC1906768

  8. Tompson SW, Merriman B, Funari VA, Fresquet M, Lachman RS, Rimoin DL, Nelson SF, Briggs MD, Cohn DH, Krakow D. A recessive skeletal dysplasia, SEMD aggrecan type, results from a missense mutation affecting the C-type lectin domain of aggrecan. Am J Hum Genet 84:72-79, 2009. PMCID: PMC2668039

  9. Cohn DH, Byers PH, Steinmann B and Gelinas RE. Lethal osteogenesis imperfecta resulting from a single nucleotide change in one human proα1(I) collagen allele. Proc Natl Acad Sci USA 83:6045-6047, 1986. PMCID: PMC386434

  10. Cohn DH, Starman BJ, Blumberg B and Byers PH. Recurrence of lethal osteogenesis imperfecta due to parental mosaicism for a dominant mutation in a human type I collagen gene. Am J Hum Genet 46:591-601, 1990. PMCID: PMC54009