The Genetic Disease Foundation
THE GENETIC DISEASE FOUNDATION
Legacy and Impact
Founded in 1997 by patients and families affected by genetic disorders, the Genetic Disease Foundation (GDF) was a volunteer-run, non-profit 501(c)(3) organization dedicated to supporting research, education, and the prevention of genetic diseases. The Foundation ceased operations in October 2024, leaving behind a 25-year legacy of scientific advancement, public education, and patient advocacy.
GDF was a founding member of the Jewish Genetic Disease Consortium (JGDC), whose mission was to educate medical professionals, clergy, and the general public about genetic diseases and to promote timely and appropriate carrier screening for individuals planning or expanding their families. Through this collaboration, GDF played a key role in advancing awareness of genetic carrier screening across diverse communities.
Advancing Science and Medical Discovery
Over its history, GDF raised millions of dollars to support research that helped identify the genetic basis of numerous diseases and expanded knowledge of carrier testing and newborn screening. Foundation-funded initiatives significantly increased both physician and public awareness of genetic disorders.
Notably, GDF funding enabled Mount Sinai’s Department of Genetics and Genomic Sciences to acquire state-of-the-art DNA sequencing, mass spectrometry, and gene mutation detection equipment, accelerating diagnosis and research across a wide range of genetic diseases. This support contributed to major scientific breakthroughs, including:
• Identification of 25 genes responsible for genetic diseases whose causes were previously unknown
• Identification of genes linked to a major congenital heart disease, a form of arthritis, and a bone disease leading to the development of drug therapy for osteoporosis
• Gene mapping for four debilitating syndromes
• Identification of genes associated with four additional syndromes
• Identification of key DNA lesions involved in cancer, immunodeficiency disorders, and severe birth defects
• Development of Fabry Disease treatment, approved by the FDA in 2003
• Advancement of an investigational treatment for Niemann?Pick Types A and B disease
• Support for testing innovative treatment concepts for genetic diseases at the National Institutes of Health
Enduring Academic Impact
In 2007, GDF established an endowment to create the Francis Crick Professorship of Human Genetics at the Icahn School of Medicine at Mount Sinai. The professorship was awarded to Dr. Edward H. Schuchman, PhD, a member of the GDF Medical and Scientific Advisory Board.
Schuchman's work has led to significant discoveries in rare disease genetics and played a central role in developing therapies for previously untreatable conditions. Most notably, his research resulted in an enzyme replacement therapy for Acid Sphingomyelinase Deficient (ASMD), also known as Niemann?Pick disease, which received FDA approval in 2022.
His work on mucopolysaccharide storage disorders (MPS) has led to multiple ongoing clinical trials of experimental therapies. Dr. Schuchman’s laboratory also isolated the gene responsible for Farber Lipogranulomatosis (Farber disease), identified patient mutations, developed the first animal model, produced the first recombinant human enzyme for treatment (rhAC), and conducted the first proof?of?concept enzyme replacement studies.
Education, Awareness, and Workforce Development
Education and outreach were central to GDF’s mission. Signature initiatives included:
• Know Your Genes, a public awareness campaign encouraging individuals to understand the importance of genetic testing
• One Test, Many Answers, a national campaign urging healthcare providers to engage patients in conversations about pre?pregnancy and prenatal carrier screening
As part of this campaign, GDF distributed more than 40,000 educational posters to members of the American College of Obstetricians and Gynecologists (ACOG) and the National Society of Genetic Counselors (NSGC).
GDF also supported the future of genetic medicine by funding scholarships for students in the Master of Science in Genetic Counseling program at the Icahn School of Medicine at Mount Sinai, advancing the program’s mission to train leaders in clinical care, research, education, advocacy, and health policy within an inclusive and equitable learning environment.
A Lasting Legacy
The members of the Genetic Disease Foundation remain deeply grateful to Stan Michelman, co?founder of both the Genetic Disease Foundation and the Jewish Genetic Disease Consortium. His unwavering dedication and leadership in the fight against genetic diseases inspired generations of researchers, clinicians, advocates, and families.
Although GDF concluded its operations in 2024, its impact continues through the discoveries it enabled, the professionals it supported, and the countless lives improved by advances in genetic diagnosis, treatment, and prevention.
