Research Firsts by Current Faculty

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To achieve GDF’s important mission, the Foundation recognized the value of affiliating with a major medical institution. After a thorough review of current genetic research nationwide, GDF selected Mount Sinai School of Medicine’s Department of Human Genetics (DHG), one of the largest and most productive genetic departments in the country, as its ‘center of excellence’ and grant recipient.

Recognized as a leader in its field, the 170-member Department of Human Genetics has made numerous contributions to the diagnosis, prevention and treatment of genetic diseases. Department physicians and scientists are focused on discovering the genes that cause single gene genetic disorder as well as genes that predispose to common diseases that run in every family.

The faculty of the Department of Human Genetics are pioneers in translation cutting edge scientific advances in human genetics to direct patient care. Currently, DHG is the largest enzyme replacement treatment center for Gaucher disease, on of the most common enzyme deficiency disorders affecting those of Ashkenazi Jewish descent. The Department develop enzyme replacement therapy for a lysosomal storage disorder known as Fabry disease, currently being evaluated in FDA-approved clinical trials. The faculty continue to develop treatments and eventual cures for several other genetic diseases as well.