GDF is completely run by volunteers, which enables it to use all of its fundraising dollars to directly fight genetic diseases. Since its inception, the Foundation has raised millions through galas and other fundraising events to support research and education focused on preventing genetic disorders.
The GDF’s support of Mount Sinai has led to the following breakthroughs:
- The identification of 25 genes that cause genetic diseases. In all 25, either the defect or the cause was unknown.
- The identification of a susceptibility gene for prostate cancer.
- The identification of a gene for a major form of congenital heart disease, a form of arthritis and a form of bone disease is leading to a drug therapy for osteoporosis.
- Gene mappings for four debilitating syndromes including Tukel Syndrome, a congenital eye disease that leads to blindness.
- The identification of genes for four other syndromes including Hereditary Osteosarcoma Syndrome.
- Identification of key DNA lesions for diseases involving Cancer, Immunodeficiency, and severe birth defects.
And from Mount Sinai’s gene research has come treatments:
- Treatment for Fabry Disease, FDA approved in 2003.
- Treatment for Niemann-Pick Type B Disease.
- Testing a new concept for treatment of Genetic Diseases at the National Institutes of Health.
Each rare disease breakthrough opens doors for knowledge that can help cure myriad other diseases.




