The Departmental Roadmap

III. Clinical Research and Patient Care Activities

Overview of Activities

As noted above, an important strength of our Department is translational research, leading to the development of several therapeutics that have been or will be evaluated in clinical trials. In addition, the Department provides comprehensive genetic services from preconception to late-adulthood. These programs include the Reproductive Genetics Program, the Program for Inherited Metabolic Diseases, The Comprehensive Diagnosis and Treatment Program for Gaucher, Fabry, and Niemann-Pick Diseases, the Clinical Genetics Program, the Center for Jewish Genetic Diseases, the Cardiovascular Genetics Program, and the Cancer Genetics Counseling Program. There also are three busy CLIA-certified laboratories in the Department providing sophisticated genetic diagnoses and therapeutic monitoring: Molecular Genetics, Biochemical Genetics, and Cytogenetics.

We anticipate that these clinical activities will continue to grow with the development of therapies for inherited metabolic diseases, requiring clinical trials to evaluate their safety and efficacy. Already, the Department is a national leader in this area. Similarly, there will be new and improved molecular diagnostics for additional Mendelian disorders and for predisposition/susceptibility genes for common diseases. Also, it is expected that genetic screening and counseling programs will expand, and that pharmacogenetic testing will become a reality.