Medical Genetics Institute
The Medical Genetics Institute at Cedars-Sinai seeks to expand knowledge of human genetics and to apply discoveries in the field to the prevention and management of inherited diseases and birth defects.
Research
The Medical Genetics Institute, world-renowned for its research in the areas of genetic diseases and birth defects, is also the home of the International Skeletal Dysplasia Registry. Major research breakthroughs include the identification of the genes responsible for diseases such as diabetes, inflammatory bowel disease and coronary artery disease; and the discovery of the genes associated with numerous syndromes involving malformations of body organs, skeletal dysplasias, deafness and mental retardation.
Institute researchers are currently participating in the identification of gene markers that cover the entire human genome and have most recently identified the genes responsible for different aspects of Downs Syndrome. In the past year, three major textbooks on Medical Genetics have been published by institute faculty members.
Clinical Care
The Medical Genetics Institute provides comprehensive, multidisciplinary services for the diagnosis, prevention and management of hereditary disorders and birth defects. Services include genetic risk assessment, screening and counseling; cytogenetic testing, prenatal diagnosis, therapeutic services and ongoing consultation to primary care and specialty physicians. The institute diagnoses and treats a wide range of genetic conditions, including:
- Connective tissue disorders
- Birth defects
- Growth disorders
- Lysosomal storage diseases
- Neurofibromatosis
- Inherited ophthalmologic conditions
- Genetically based mental retardation and developmental disability
- Metabolic disorders
- Common genetic diseases: risk for cancer and heart disease
Education
The Medical Genetics Institute conducts teaching programs and an active residency training program. Cedars-Sinai is the administrative home of the UCLA Intercampus Medical Genetics Training Program and is fully accredited by the Accreditation Council for Graduate Medical Education and the American Board of Medical Genetics. The program offers residencies in clinical medical genetics and combined pediatrics-medical genetics, as well as two- and three-year research fellowship programs in cytogenetics, clinical biochemical genetics and clinical molecular genetics.
Leadership
David L. Rimoin, MD, PhD
Director, Medical Genetics Institute
Director, International Skeletal Dysplasia Registry
Steven Spielberg Family Chair
Jerome I. Rotter, MD
Director of Research and Co-Director, Medical Genetics Institute
Director, Division of Medical Genetics
Board of Governors Endowed Chair in Medical Genetics
