David Rimoin, MD, PhD Chair, Medical Genetics Research Institute Director, International Skeletal Dysplasia Registry
Email: david.rimoin@cshs.org Phone: (310) 423-4461 Fax: (310) 423-0462

Institute Affiliation

Academic Appointments

Awards and Activities

Research Focus

Primary areas of research interest have focused on medical genetics, particularly short stature and the skeletal dysplasias (a group of disorders associated with abnormalities in the size and shape of the limbs, trunk and/or skull) and heritable disorders of connective tissue. Developed the International Skeletal Dysplasia Registry, the largest such registry in the world.

Research Contributions

Described over 25 new syndromes, participated in the discovery of the molecular defect in over 40 skeletal dysplasias involving over 25 different genes, described isolated growth hormone deficiency, hypothesized genetic heterogeneity in diabetes mellitus.

Current investigations include:

Clinical manifestations, complications, treatment and molecular mechanisms in the 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. Hiraoka S, Furuichi T, Nishimura G, Shibata S, Yanagishita M, Rimoin DL, Superti-Furga A, Nikkels PG, Ogawa M, Katsuyama K, Toyoda H, Kinoshita-Toyoda A, Ishida N, Isono K, Sanai Y, Cohn DH, Koseki H, Ikegawa S: Nucleotide-sugar transporter SLC35D1 is critical to chondroitin sulfate synthesis in cartilage and skeletal development in mouse and human. Nat. Med., 13(11): 1363-7, 2007
3. Nishimura G, Nakashima E, Hirose Y, Cole T, Cox P, Cohn DH, Rimoin DL, Lachman RS, Miyamoto Y, Kerr B, Unger S, Ohashi H, Superti-Furga A, Ikegawa S: The Shwachman-Bodian-Diamond syndrome gene mutations cause a neonatal form of spondylometaphysial dysplasia (SMD) resembling SMD Sedaghatian type. J. Med. Genet., 44(4): e73, 2007
4. Bicknell LS, Farrington-Rock C, Shafeghati Y, Rump P, Alanay Y, Alembik Y, Al-Madani N, Firth H, Karimi-Nejad MH, Kim CA, Leask K, Maisenbacher M, Moran E, Pappas JG, Prontera P, de Ravel T, Fryns JP, Sweeney E, Fryer A, Unger S, Wilson LC, Lachman RS, Rimoin DL, Cohn DH, Krakow D, Robertson SP: A molecular and clinical study of Larsen syndrome caused by mutations in FLNB. J. Med. Genet., 44(2): 89-98, 2006