Category: Gaucher Disease Research

Are We Close to a Cure for Gaucher Disease?

Scientists have been searching for a cure for all genetic diseases, including Gaucher disease, for more than 40 years. Since inherited genetic disorders result from an altered sequence of genes located on chromosomes within each cell in your body, a cure must permanently reverse the underlying genetic mutations that cause Gaucher disease(1). Beginning in the… Read More »

Connection to Parkinson Disease Brings New Attention to Gaucher

A rare condition affecting about 1 in 40,000 live births, Gaucher disease has not always been a research priority. But times are changing. Since 1998, Dr. Ellen Sidransky, head of the Molecular Neurogenetics Section in the National Human Genome Research Institute of the National Institutes of Health in Maryland, has been at the forefront of… Read More »

[Video] Meet Dr. Pramod Mistry

Dr. Mistry is the director of the National Gaucher Disease Treatment Center and professor of pediatrics and medicine at Yale School of Medicine. He is board-certified in internal medicine. Dr. Mistry has authored numerous journal articles, book chapters and reviews on Gaucher disease. He has received several awards for his work on Gaucher disease, including:… Read More »

How Researchers Uncovered the Gaucher Carrier Rate

Today, researchers are working on complex problems related to Gaucher disease like finding drugs to treat neurological forms of the disease and understanding its complicated relationship with Parkinson’s disease. But 37 years ago, scientists were struggling to grasp how many people even had Gaucher disease, let alone how many were asymptomatic carriers capable of passing… Read More »

Clinical Trial for Gaucher Disease Type 3

Sanofi Genzyme’s Phase 2 Clinical Trial to Evaluate Oral Substrate Reduction Therapy for Gaucher Disease Type 3 Sanofi Genzyme is investigating an orally administered substrate reduction therapy in Gaucher disease type 3 as part of the 2-part LEAP clinical research study. The first part of the LEAP study will measure and compare certain factors in… Read More »

The 25th Anniversary of FDA Approval of ERT

In 1991, the U.S. Food and Drug Administration (FDA) approved the first treatment ever for Gaucher disease (pronounced go-SHAY). This treatment, called enzyme replacement therapy (ERT), replaces the enzyme missing in patients with Gaucher disease with a modified version of the enzyme. ERT helps the body break down glucocerebroside, a fatty chemical that accumulates in… Read More »

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