Co-director, International Skeletal Dysplasia Registry
Affiliations
Member, American Society of Human Genetics
Member, American Society for Bone and Mineral Research
Molecular Diagnostics Certification, American Board of Medical Genetics
Education
Postdoctoral Degree
Human Genetics, University of Washington, 1983-88
Doctoral Degree
PhD, Marine Biology, Scripps Institution of Oceanography, UCSD, 1977-83
Degree
BA, Aquatic Biology, University of California, Santa Barbara, 1975-77
Undergraduate Studies
Biology, University of California, San Diego, 1973-75
Awards & 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 & Publications (10):
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
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
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
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
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
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
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
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
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
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
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