dcohn's picture
Daniel Cohn
Phone: 310-206-3990
Office: 550 Orthopaedic Hospital Research Center

Education

BA, UC SANTA BARBARA, Aquatic Biology 1977
PhD, UC SAN DIEGO, Marine Biology 1983

Research Interests

Our laboratory studies the molecular basis of the skeletal dysplasias, inherited human disorders that affect skeletal development, growth, and maintenance. Our goal is to provide a comprehensive understanding of the genes and gene products that participate in the development of the skeleton and that ultimately determine the shapes of the bones, the height an individual achieves, and the stability of the skeleton. A major step toward achieving our goals is genomic analysis in skeletal dysplasia families to identify the gene associated with each of the over 450 different skeletal dysplasias. For disorders in which the defective gene is known, a combination of mutation analysis and biosynthetic studies is used to understand the mechanisms by which the mutations arise, the inheritance pattern of each disorder, and the effect of each mutation of the synthesis, structure, and function of the encoded protein. These goals are augmented by studies in model organisms, particularly mice, that include mechanistic studies and the development of therapies to ameliorate or cure these disorders.

Selected Publications

Lee H, Nevarez L, Lachman RS, Wilcox WR, Krakow D, Cohn DH; University of Washington Center for Mendelian Genomics., "A second locus for schneckenbecken dysplasia identified by a mutation in the gene encoding inositol polyphosphate phosphatase-like 1 (INPPL1)", Am J Med Genet A 167: 2470-2473 (2015).

Taylor SP, Dantas TJ, Duran I, Wu S, Lachman RS; University of Washington Center for Mendelian Genomics Consortium, Nelson SF, Cohn DH, Vallee RB, Krakow D., "Mutations in DYNC2LI1 disrupt cilia function and cause short rib polydactyly syndrome", Nat Commun 6: (2015).

Duran I, Nevarez L, Sarukhanov A, Wu S, Lee K, Krejci P, Weis M, Eyre D, Krakow D, Cohn DH., "HSP47 and FKBP65 cooperate in the synthesis of type I procollagen", Hum Mol Genet 24: 1918-1928 (2015).

Li B, Krakow D, Nickerson DA, Bamshad MJ; University of Washington Center for Mendelian Genomics, Chang Y, Lachman RS, Yilmaz A, Kayserili H, Cohn DH., "Opsismodysplasia resulting from an insertion mutation in the SH2 domain, which destabilizes INPPL1", 164: 2407-2411 (2014).

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).

Leddy HA, McNulty AL, Lee SH, Rothfusz NE, Gloss B, Kirby ML, Hutson MR, Cohn DH, Guilak F, Liedtke W., "Follistatin in chondrocytes: the link between TRPV4 channelopathies and skeletal malformations", FASEB J 28: 2525-2537 (2014).

Saitta B, Passarini J, Sareen D, Ornelas L, Sahabian A, Argade S, Krakow D, Cohn DH, Svendsen CN, Rimoin DL., "Patient-Derived Skeletal Dysplasia iPSCs Display Abnormal Chondrogenic Marker Expression and Regulation by BMP2 and TGF?1", Stem Cells Dev 23: 1464-1478 (2014).

Huber C, Wu S, Kim AS, Sigaudy S, Sarukhanov A, Serre V, Baujat G, Le Quan Sang KH, Rimoin DL, Cohn DH, Munnich A, Krakow D, Cormier-Daire V., "WDR34 mutations that cause short-rib polydactyly syndrome type III/severe asphyxiating thoracic dysplasia reveal a role for the NF-?B pathway in cilia", Am J Hum Genet 93: 926-931 (2013).

Laine CM, Joeng KS, Campeau PM, Kiviranta R, Tarkkonen K, Grover M, Lu JT, Pekkinen M, Wessman M, Heino TJ, Nieminen-Pihala V, Aronen M, Laine T, Kroger H, Cole WG, Lehesjoki A-E, Nevarez, L, Krakow D, Curry CJR, Cohn DH, Gibbs RA, Lee BH, Makitie O., "Mutations in WNT1 cause early-onset osteoporosis and osteogenesis imperfecta", New Engl J Med 368: 1809-1816 (2013).

Sule G, Campeau PM, Zhang VW, Nagamani SC, Dawson BC, Grover M, Bacino CA, Sutton VR, Brunetti-Pierri N, Lu JT, Lemire E, Gibbs RA, Cohn DH, Cui H, Wong LJ, Lee BH., "Next-generation sequencing for disorders of low and high bone mineral density", Osteoporos Int 24: 2253-2259 (2013).

Shapiro JR, Lietman C, Grover M, Lu JT, Nagamani SC, Dawson BC, Baldridge DM, Bainbridge MN, Cohn DH, Blazo M, Roberts TT, Brennen FS, Wu Y, Gibbs RA, Melvin P, Campeau PM, Lee BH, "Phenotypic variability of osteogenesis imperfecta type V caused by an IFITM5 mutation", J Bone Miner Res 28: 1523-1530 (2013).

Below JE, Earl DL, Shively KM, McMillin MJ, Smith JD, Turner EH, Stephan MJ, Al-Gazali LI, Hertecant JL, Chitayat D, Unger S, Cohn DH, Krakow D, Swanson JM, Faustman EM, Shendure J, Nickerson DA, Bamshad MJ., "Whole-Genome Analysis Reveals that Mutations in Inositol Polyphosphate Phosphatase-like 1 Cause Opsismodysplasia", Am J Hum Genet 92: 137-143 (2013).

Cohn DH, Shapiro LJ, Kaback MM. David L. Rimoin., Am J Hum Genet 91: 403-407 (2012).

Cohn, D.H., "Genome and Gene Structure", In: Principles and Practice of Medical Genetics, 6th edition (2012).

Hudson DM, Kim LS, Weis M, Cohn DH, Eyre DR., "Peptidyl 3-hydroxyproline binding properties of type I collagen suggest a function in fibril supramolecular assembly", Biochemistry 51: 2417-2424 (2012).