Resources and Support Groups Related to Genetic Diseases
The Mount Sinai Department of Genetics and Genomic Sciences is one of the largest medical genetics centers in the United States, providing expert diagnostic, therapeutic, and counseling services for patients and families with genetic disorders, birth defects, and pregnancy loss.
The Mount Sinai Comprehensive Gaucher Disease Treatment Center represents the single largest clinic in the world devoted to the diagnosis and treatment of Gaucher disease. Research includes basic and clinical-related studies, including a variety of molecular techniques to uncover the basis of clinical heterogeneity, and clinical investigations to elucidate the natural history of Gaucher disease and how its course may be modified with treatment using enzyme replacement.
The Center provides Fabry patients and their families with information about the symptoms, diagnosis, management, and enzyme replacement therapy for Fabry disease.
The GDF has strengthened its alliance with the Jewish Genetic Disease Consortium, a group of 15 Jewish genetic disease organizations of which the GDF was a founding member, to bring awareness to the Ashkenazi population worldwide.
The American Porphyria Foundation (APF) is dedicated to improving the health and well-being of individuals and families affected by Porphyria.
Fabry Support and Information Group (FSIG)’s mission is to raise awareness of Fabry disease and its symptoms. The FSIG website provides mutual self-help by linking patients and family members/caregivers.
The mission of the National-Tay Sachs & Allied Diseases Association is to lead the fight to treat and cure Tay-Sachs, Canavan and related genetic diseases and to support affected families and individuals in leading fuller lives.
Evan Lee Ungerleider Foundation
The Evan Lee Ungerleider Foundation is a restricted fund in the NTSAD New York Area organization. The foundation was established by Shari and Jeff Ungerleider in honor of their son Evan who was afflicted with Tay-Sachs Disease.
The Mathew Forbes Romer Foundation emerged in 1998 — inspired by the strength of a little boy with a fatal genetic disease — to lead the fight for education, quality assurance, and research of children’s genetic diseases of the brain.
Corey J Ross Foundation
Josilyn Faith’s Foundation
Mount Sinai Sickle Cell Disease Program
This is an NIH-funded program that sponsors research projects and provides clinical and psychosocial services to serve the patients from the sickle cell disease community.
International Fabry Support Group
International Niemann-Pick Patient & Family Support Group