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

I want to help out, but I don’t know how

Have you ever wanted to help out the MSUD Family Support Group but were unsure about how to contribute? The MSUD Family Support Group is actively looking for volunteers to assist with advocacy and fundraising efforts.

Read More

Sweet Odyssey

Artur Santos was born on January 18, 2002, the second son of Soraya and Idario Santos. They never imagined how their lives were about change as the second baby arrived.

Read More

Updates To Nutrition Management Guidelines

The Nutrition Management Guideline for MSUD was first published in 2014. Since that time, there have been reports of new research and experiences that have prompted updates of the guideline.

Read More

Indigo Charlie Mays - Variant MSUD Age 4

Meet our girl Indigo Charlie Mays. After a smooth pregnancy and delivery, she was born on July 21st, 2013 in Seattle, WA.

Read More

Our Story

On April 23 2015, our precious firstborn son Eliyahu Tuvia was born in Jacksonville, FL. All seemed well and we took our bundle of joy home.

Read More

From The Chairman’s Desk

On July the 21st the MSUD Board of Directors traveled to Bethesda, Maryland for our annual Board meeting. We stayed at the Hyatt Regency in Bethesda.

Read More


A Child's Life

Subscribe to our mailing list

Signup To Our Newsletter Signup with your email address to receive news and updates