The Genetic Disease Foundation was formed 11 years ago by several organizations and families affected by genetic diseases sharing a common bond. The diseases involved affected small populations with horrific and life threatening diseases. Some of the family members had succumbed to these rare diseases. Recognizing the difficulties faced in combating these orphan diseases, the Foundation founders adopted the philosophy to unite resources to raise research funds for genetic diseases in general, while also promoting awareness of these diseases.

The Foundation designated the Department of Genetics and Genomic Science at The Mount Sinai School of Medicine in New York City, one of the largest genetics programs in the US, as its "Center of Excellence" and the recipient of its research grants. In so doing, the GDF has recognized the past accomplishments and dedication of the department to innovative efforts to discover cures and/or treatments for these rare genetic diseases. Since genetic and especially metabolic diseases, share common bases, an advance in one, often leads to advances for the others.

Since our inception, The GDF has raised several million dollars and has used these funds towards the purchase of state-of-the-art research equipment for the Department. Recent purchases have included a mass spectrometer for critical analyses for the diagnosis and monitoring of various metabolic disorders and a NextGen DNA sequencer to identify the genetic mutations causing these diseases. These are the most advanced research instruments for studies of disease pathogenesis and evaluations of new treatment. This equipment will facilitate efforts to prevent and develop new treatments for metabolic diseases including MSUD and PKU. Additionally we have invested in research grants that have been given to scientists involved in genetic research. While raising money for research the GDF has concurrently spearheaded several campaigns reaching tens of thousands of doctors including the "One Test 16 answers" awareness campaign encouraging a simple screening test to identify carriers of gene mutations for 16 genetic diseases.

The continued development and research of genetics has enabled the Foundation to continue its mission through expanded testing and knowledge.

Since the GDF is staffed by volunteers, all funds are directed to our research and awareness efforts. To find out more about our organization, visit our website at


The MSUD Family Support Group is currently funding several research projects and we are proactively looking for researchers interested in developing new treatments or finding a cure for MSUD. Significant funding is necessary if we are to accomplish this goal.
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