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

Melvin Carruth

This letter is a tribute to my brother Melvin Carruth! We believe he is one of the oldest living African Americans with Maple Syrup Urine Disease.

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NBS-MSUD Connect: Your One-Stop Shop For MSUD Resources

NBS-MSUD Connect was launched as part of the Newborn Screening Connect patient registry (NBS Connect) in 2013 through a partnership between the Department of Human Genetics at Emory University, the Maple Syrup Urine Disease (MSUD) Family Support Group and other key stakeholders.

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Cambrooke Therapeutics

Cambrooke Therapeutics continues to expand its line of delicious and nutritious low protein foods to help improve the lives of individuals with Inborn Errors of Metabolism such as MSUD.

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Emory Metabolic Camp 2018 Announcement

Join us June 18-23, 2018 for the 24th Annual Metabolic Camp at Emory University in Atlanta, GA!

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From The Chairman’s Desk

As I sit here reflecting on how much the care and treatment of MSUD has changed over the years, my mind goes back to 1978 when our son Keith was born.

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MSUD Advocacy Report

Medical Nutrition Equity Act

The Medical Nutrition Equity Act (MNEA) would require all private insurance plans (state regulated or self-insured/self-funded) and federal health programs, including Children’s Health Insurance Program, Tricare, Medicaid, Medicare, and Federal Employee Health Benefit Plans, to provide coverage for formula and low-protein foods for all children and adults with MSUD.

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The MSUD Family Support Group Is Excited To Announce Their Participation In The Million Dollar Bike Ride

The MSUD Family Support Group is excited to announce their participation in The Million Dollar Bike Ride

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19th Biennial MSUD Symposium

I can’t believe that almost two years have passed and it is time for another MSUD Symposium! I am especially excited about this conference because I’ve built in extra time for social interaction.

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A Child's Life

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