GDF was a founding member of the Jewish Genetic Disease Consortium (JGDC) whose mission is to educate medical professionals, clergy and the general public to increase awareness about genetic diseases and encourage timely and appropriate carrier screening for anyone starting or expending their family.
Over its 25-year history, the GDF raised millions of dollars to help enable advancements in identifying the genetic basis of many diseases, and to help raise awareness about carrier testing and newborn screening, as well as increase physician and public awareness of genetic disorders.
Funds raised by the Foundation helped enable the purchase of state-of-the-art DNA sequencing, mass spectrometry, and gene mutation detection equipment for Mount Sinai’s Department of Genetics and Genomic Sciences. This technology helped expedite diagnosis and research for a range of genetic diseases and supported a number of important breakthroughs, including:
- The identification of 25 genes that cause genetic diseases, where either the defect or the cause had previously been 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
- Treatment for Fabry Disease, FDA approved in 2003
- Investigational treatment for Niemann-Pick Type B Disease
- Testing new concepts for treatment of genetic diseases at the National Institutes of Health
In 2007, the GDF provided an endowment to support the creation of the Francis Crick Professorship of Human Genetics at The Icahn School of Medicine at Mount Sinai, which was awarded to GDF Medical and Scientific Advisory Board member, Dr. Edward H Schuchman, PhD. Dr. Schuchman’s work at Mount Sinai has led to multiple discoveries in the role of specific genes in rare diseases. He has played a critical role in developing therapies to treat rare diseases, notably an enzyme replacement therapy for Acid Sphingomyelinase Deficient (ASMD), more commonly known as Niemann-Pick disease, which was approved by the FDA in 2022.
In addition, Dr. Schuchmann’s work on mucopolysaccharide storage disorders (MPS) has led to multiple ongoing clinical trials for experimental drugs to treat the disease. His laboratory also isolated the gene responsible for Farber Lipogranulomatosis (Farber disease), identified the first mutations in patients, developed the first animal model, produced the first human recombinant enzyme for treatment (recombinant human acid ceramidase, rhAC), and carried out the first proof-of-concept enzyme replacement therapy studies in the animal model. Based on these results, clinical production of the enzyme has been completed and the first-in-man clinical trials are scheduled to begin in 2023.
Throughout its history, the GDF has played a vital role in raising awareness of genetic diseases. Major programs included the creation of Know Your Genes, a public awareness campaign to help people understand the importance of genetic testing, and the One Test, Many Answers campaign, which encouraged health care providers to engage in dialogue with patients about pre-pregnancy and prenatal genetic carrier screening. As part of the campaign the GDF mailed over 40,000 posters to members of American Congress of Obstetricians and Gynecologists (ACOG) and members of the National Association of Genetic Counselors (NAGC).
The GDF also provided a series of scholarships for Master of Science in Genetic Counseling Program at the Icahn School of Medicine at Mount Sinai (ISMMS), in support of the program’s mission: “to train the next generation of leaders in scientific and clinical discovery, innovation, education, health policy, clinical care and advocacy in a diverse, equitable and inclusive learning environment”.
The members of the GDF are forever indebted to Stan Michelman, co-founder of both the Jewish Genetic Disease Consortium and Genetic Disease Foundation, whose tireless work in the fight against genetic diseases inspired us all.