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

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

Galen Carrington Classic MSUD age 27

Galen Carrington is a 27 year old Indiana resident who has classic MSUD. He underwent liver transplantation 5 years ago at Children’s Hospital

Read More

Cambrooke Foods Hosts Local Event

Cambrooke has been doing cooking demonstrations, social meet ups and educational events for patients, their families and the clinician’s that support them for many years.

Read More

NBS-MSUD Connect: Advancing MSUD Research And More


Rare disease registries have received attention in recent years because of the many ways in which they can benefit the rare disease community.

Read More

Adjusting Protein In An Adult With MSUD

A little over a year ago, in January, Jeff was just not himself. He had limited energy, was not eating well, and often appeared slightly agitated.

Read More


In the 2016 survey of the membership of the MSUD Family Support Group, research for improved treatments and potential cure was rated “most important” by 90% of the responding members.

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