Northeast Medical Group expansion tackles rare genetic disorder known as Gaucher disease hero

New Rochelle, NY (Aug. 4, 2021) – In an effort to widen patient access to the treatment of a rare genetic disorder, Yale School of Medicine’s National Gaucher Disease Treatment Center has expanded to include a third location in New Rochelle, NY.

The New York location makes it easier for patients to access care, including people who travel from all parts of the United States and the world to see Pramod Mistry, MD, PhD, the center’s director and a professor of Medicine and Pediatrics at Yale School of Medicine. Other locations include New Haven and Stamford, CT.

“A major danger of Gaucher disease is lack of awareness. People wait an average of five years before receiving an accurate diagnosis. Additionally, not many providers have experience treating the disease,” said Dr. Mistry, an expert in the field for three decades.

Located at 145 Huguenot St. in New Rochelle, the Gaucher program is integrated with the Northeast Medical Group Obstetrics and Gynecology office, creating opportunities for genetic testing which can mitigate potential risks for the baby if both parents carry the mutation. Physicians at the center also can provide ongoing care to women who have Gaucher (since the disease can progress during pregnancy) and to women who discover for the first time that they have Gaucher disease during pregnancy.

What is Gaucher disease?

Worldwide, Gaucher disease affects 1 in 40,000 people, but its frequency is as high as 1 in 450 births among people of Ashkenazic (Eastern European) Jewish decent. There are approximately 6,000 people with Gaucher disease in the United States.

Individuals with Gaucher disease have macrophages – the cells responsible for eliminating damaged cells – that lack the enzyme to break down a molecule called glucocerebroside. As a result, the molecule overwhelms the macrophage, turning it into what is called a Gaucher cell, which then accumulate in bone marrow, the liver and the spleen. Once there, they cause inflammation and scar tissue responsible for many symptoms of Gaucher disease, such as bone pain, organ enlargement, osteoporosis, bone infarction, anemia, fatigue, excessive bleeding and bruising. Some patients also are at risk of cancers and Parkinson disease.

Gaucher disease is not yet curable, but most types are treatable with regular infusions of a synthetic enzyme. While the disease is present at birth, symptoms can appear at any age. Early diagnosis and treatment are vital to the best outcomes. Diagnosis involves a genetic test and a blood test that measures enzyme activity. Dr. Mistry is studying a new treatment for Gaucher disease that could minimize the need for infusions.

Eliminating stigmas

In addition to providing medical care, Dr. Mistry wants to lessen the stigma associated with genetic disorders such as Gaucher disease. “I learned quite late in my career about the trauma the whole family experiences shuttling to different doctors and thinking they passed on the wrong genes. Every human on this planet is a carrier of several dozen genetic diseases,” he said. “I would like to remove the label of genetic disease when I discuss this condition – the psychological burden shouldn’t be any more than high cholesterol. This is a very complex condition, and our core mission is to deliver science-driven holistic care.”