Category: Gaucher Disease Research

What Is Our Impact? – NGF 2019 Impact Report

In our 2019 Impact Report, we take a look at some of our major achievements in heightening awareness of Gaucher Disease. Read about how NGF has connected with nearly 2,000 individuals who then received screening or testing for Gaucher with no out-of-pocket expenses; how millions of people are engaging with our content online; and how… Read More »

Developing Enzyme Replacement Therapy – An Insider’s Perspective

Enzyme replacement therapy (ERT) was first approved for use by the U.S. Food and Drug Administration in 1991. This revolutionary therapy was the first discovered to correct the underlying enzyme deficiency that causes the non-neuronopathic symptoms of Gaucher disease types 1 and 3. Today, thousands of people living with Gaucher disease receive ERT infusions about… Read More »

[MEDTalks Video] Managing Bone Health

Growth in Gaucher: Managing Bone Health Dr. Heather A. Lau, MD, MS, Assistant Professor and Director of the Lysosomal Storage Disorders Program at New York University School of Medicine, discusses managing bone health for those who have Gaucher disease with an emphasis on the impact early intervention and treatment, particularly when introduced before or during… Read More »

[MEDTalks Video] Does the Key Biomarker of Gaucher Disease Hold the Key to Understanding?

Illuminating Lyso-Gyl 1: Does the Key Biomarker of Gaucher Disease Hold the Key to Understanding? Dr. Pramod Mistry, MBBS, PhD, FRCP, Professor of Medicine, Pediatrics, and Cellular & Molecular Physiology, Department of Internal Medicine, Yale New Haven Hospital, discusses the importance of bio markers as they relate to patients with Gaucher disease. He illuminates the… Read More »

Clinical Trials & Gaucher Disease: Phases, Types, & What You Should Know

Medical research has always been important for furthering our understanding of disease. Through the completion of clinical studies, doctors and scientists identify new and effective treatment methods for some of the rarest diseases, including Gaucher disease. Gaucher Disease Clinical Trials The mainstay of Gaucher disease treatment—enzyme replacement therapy (ERT)—was developed thanks to clinical trials. More… Read More »

Gaucher: SRT, ERT & Drug Interactions | National Gaucher Foundation

Gaucher Disease: Enzyme Replacement Therapy, Substrate Reduction Therapy & Potential Drug Interaction Side Effects Substrate reduction therapy (SRT) first debuted as an alternative method of treating Gaucher disease in 2003. At that time, miglustat (Zavesca®) was the only known oral medication capable of managing Gaucher disease symptoms to prevent the condition from worsening. In 2014,… Read More »

Parkinson Disease Risk in the Gaucher Population

Leah Zaretsky, a Master’s Candidate in Genetic Counseling at Mt. Sinai, composed the below post. Leah shares the research findings from her thesis study survey entitled Knowledge and Attitudes of Parkinson Disease Risk in the Gaucher Population. View her presentation here. This presentation is property of Leah Zaretsky and no portion should be used without… Read More »

The Links Between Gaucher Disease and Parkinson’s Disease (Podcast Recap)

Research into the link between Gaucher disease and Parkinson’s disease may provide answers to treatment for both conditions. Gaucher Disease and Parkinson’s Diseases: An Unexpected Connection As Gaucher disease research progresses, scientists are discovering stronger links between the condition and other neurological illnesses, like Parkinson’s disease. But there’s still much to learn about how, and… Read More »

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 »

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