The Genetic Disease Foundation (GDF) was established in 1997 by patients, parents and families who have suffered from genetic diseases. The Foundation's mission is to support research, education and the prevention of genetic diseases.

Specifically, GDF:

· supports education programs for the public and physicians to increase their awareness about genetic diseases and the need for and availability of testing for many disorders; and

· supports research designed to improve genetic testing and to discover ways to treat, cure and ultimately prevent genetic disorders.

· supports a genetic counselor, a health professional with a master's degree and experience in medical genetics and counseling

GDF's Affiliation with the Mount Sinai School of Medicine,
Department of Human Genetics

To achieve GDF's important mission, the Foundation recognized the value of affiliation 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 genetic disorders 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 translating cutting edge scientific advances in human genetics to direct patient care. Currently, DHG is the largest enzyme replacement treatment center for Gaucher disease, one of the most common enzyme deficiency disorders affecting those of Ashkenazi Jewish descent. The Department developed enzyme replacement therapy for a lysosomal storage disorder known as Fabry disease, currently being evaluated in FDA-approved clinical trials. The faculty continues to develop treatments and eventual cures for several other genetic diseases as well.

For further information on Mount Sinai's Department of Human Genetics, you may browse their web site at http://www.mssm.edu/genetics/