Director, Medical Genetics Institute, Steven Spielberg Chair. Distinguished Professor of Pediatrics, Cedars-Sinai, Professor of Pediatrics, Medicine, and Human Genetics, UCLA

Recent Awards and Activities

Johns Hopkins University Society of Scholars, Johns Hopkins University 1990  
Member, Institute of Medicine of the National Academy of Sciences 1992
Founding President, American College of Medical Genetics 1992-1998
President, Council of Medical Genetics Organizations (COMGO) 1993
President, Western Society for Pediatric Research 1995
Fellow, American Association for the Advancement of Science 1996   
President, American College of Medical Genetics Foundation 1998-2002
March of Dimes Colonel Harland Sanders Award for
Lifetime Achievement in the Genetics Sciences 1997
Doctor of Humane Letters (honoris causa), Finch University of Health Sciences 1997
Pioneer in Medicine Award, Cedars-Sinai Medical Center 2001
Award of Extraordinary Merit, UCLA Medical Alumni Association 2005
Legend of the LA Biomedical Research Institute at Harbor-UCLA Medical Center 2006
Leadership Award, American Society of Human Genetics 2006
Pruznansky Lecturship, March of Dimes, American College of Medical Genetics 2007
American College of Medical Genetics Foundation (ACMGF) Lifetime Achievement Award 2010

Research Focus

The skeletal dysplasias are a heterogeneous group of disorders resulting in dwarfism. We are performing a variety of multidisciplinary studies into the genetics, pathogenesis and etiology of these many disorders utilizing clinical, morphologic, biochemical and molecular techniques. These studies range from the evaluation of surgical correction of complications to the delineation of the molecular defects responsible for these disorders. I direct the International Skeletal Dysplasia registry which houses over 16,000 cases of these disorders and serves as the major source of research material for our studies.We have had over 40 years of continuous NIH support for this program project.

The Medical Genetics Institute also hosts a specialized Marfan Syndrome Center which takes a comprehensive approach to diagnosing the disorder and to provide ongoing care for affected individuals by highly trained specialists from multiple disciplines - all of whom are familiar with Marfan syndrome. The Marfan Syndrome Center is also an official NHBLI mulicenrter study site for the losartan vs atenolol clinical trial. We have also stated an ethnogenetics study and have completed a community wide screening pilot study for four genetic disorders among Persian Jews.

Research Contributions

I have been involved in the delineation of the basic molecular defect in over 45 distinct skeletal dysplasias involving over 25 different genes, the description of over 25 genetic syndromes, the first hypothesis on the heterogeneity of diabetes mellitus and the original description of isolated growth hormone deficiency and other growth hormone related dwarfing disorders.

Current investigations include

I am continuing with our active research programs in the skeletal dysplasias, heritable disorders of connective tissue and ethnogenetics.

Research Education

Director of the UCLA Intercampus Medical Genetics Training Program and the Cedars-Sinai Medical Center Residency and Fellowship program in Medical Genetics.