Old Westbury, NY – A medical researcher at New York Institute of Technology College of Osteopathic Medicine is helping to build a database to de-code the genetics behind a debilitating muscular disease.

David Tegay (D.O., '97) associate professor of internal medicine and medical genetics, is working to discover the factors that affect the severity of Fascioscapulohumeral Muscular Dystrophy, or FSHD, which causes severe muscle weakness in facial, shoulder, and trunk muscles. There is no cure or treatment for the disease, which affects about 1 in 20,000 people. It is the most common form of muscular dystrophy in adults.

Tegay's work is highlighted in a video that premiered at a fundraiser on July 18 for The Chris Carrino Foundation for FSHD, named for the Brooklyn Nets play-by-play announcer who has the disease. The foundation is funding the $47,000 study.

Tegay says his work, a joint project with Dr. Eli Hatchwell of Stony Brook University, will advance the knowledge of the genetic basis of the disease and shed light on why some family members who have FSHD display different degrees of weakness. The results of the 10-year study may help researchers develop drugs to target particular genetic factors that cause the disease.

"There's great reason for optimism and hope," said Tegay. "The type of studies we're talking about weren't possible even a short time ago" because scientists did not know the underlying mechanisms or genes responsible for the disease.

Today, they know that dysregulation of a particular genetic factor known as "Dux-4", which is found in an associated chromosomal region, is at the root of the progressive and severe weakness that develops in FSHD patients.

"We have a real viable target point for developing therapeutics and looking at pathways we can try to manipulate to decrease the symptoms of the condition," said Tegay.

Massapequa resident Jennifer Burgess, an attorney who founded a Long Island-based FSHD organization in 2009 and then combined forces with Carrino, says FSHD has been underfunded compared to other forms of muscular dystrophy.

"The goal is to find a cure and a treatment nothing else matters," said Burgess, who was diagnosed in 1994 and has a teenage son with the disease. "There is no treatment for FSHD. Doctors still say to patients, 'Come back in a year and we'll measure the progression of your muscle weakness.' That's not acceptable."

Tegay and Hatchwell have recruited more than 50 individuals to date who have answered questions and provided medical histories and records, along with blood or saliva samples for the gene tests.

"The response we've had has been overwhelming," said Tegay. "We've received contacts, and samples, and participation from subjects around the world including Australia, Canada, Israel, and France. We look forward to increasing our enrollment and following those individuals for a long time and contributing to the knowledge about FSHD."

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