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

Medical Genetics Research Institute

Academic Appointments

Professor, Pediatrics
Professor, Human Genetics
Professor, Medicine

Awards and Activities

Leadership Award, American Society of Human Genetics 20062006
Award of Extraordinary Merit, UCLA Medical Alumni Association 20052005
Member, Institute of Medicine of the National Academy of Sciences1992
Stephen Spielberg Family Chair in Pediatrics1990
Editorial Board: American Journal of Medical Genetics1997 - 2002
Communicating Editor: Human MutationCurrent
American Board of Medical Genetics, Founding President1979 - 1984
American Society of Human Genetics; President1984 - 1985
American College of Medical Genetics, Founding President1992 - 1999

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
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