NGF Community Blog

[Video] San Diego Patient Meeting

San Diego Patient Meeting

Topics: About Gaucher Disease, About the National Gaucher Foundation

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 »

Topics: Gaucher Disease Research

WORLD Symposium 2017

The 2017 WORLD Symposium was held February 13 – 17 in San Diego, CA. This is an international symposium focused on rare lysosomal storage disorders (LSD’s) for which over 1,500 participants attend. Participants range from expert physicians, researchers and treatment innovators in the field of LSD’s to patient advocacy leaders for organizations focused upon LSD’s…. Read More »

Topics: About Gaucher Disease

A Year of Growth at National Gaucher Foundation

At the age of four, Brian Berman, National Gaucher Foundation’s CEO, was diagnosed with type 1 Gaucher disease after suffering severe symptoms. The first person in the world to successfully receive enzyme replacement therapy for Gaucher disease, Mr. Berman’s personal journey from sick child to dynamic professional and married father of five has prepared him… Read More »

Topics: About the National Gaucher Foundation

[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 »

Topics: About Gaucher Disease, Gaucher Disease Research

Gaucher Disease Pain Management

For many Gaucher patients, dealing with pain is one of the most difficult parts of living with the disease. Effectively treating pain requires finding its source, which isn’t always straightforward. A variety of medications and therapies can relieve pain for Gaucher patients, although certain painkillers carry a high risk of addiction. A Gaucher specialist can… Read More »

Topics: About Gaucher Disease, Gaucher Disease Treatment

What We Know About the 3 Types of Gaucher Disease

While separating the three types of Gaucher disease is useful for diagnosis, researchers today see them as a spectrum of characteristics that blend together. Symptoms and disease progression are highly variable among individuals, even those with the same disease type or genetic mutation. Types of Gaucher Disease Gaucher disease is an inherited disorder where the… Read More »

Topics: About Gaucher Disease

Meet Ted: Gaucher Disease Patient Journey

In 1963, Ted was diagnosed with Gaucher disease type 1 at five years old. Enzyme Replacement Therapy wasn’t FDA approved until 1991, so Ted spent many years living with this disease and without any treatment. He draws on his experiences to help patients, students and medical professionals see the positives in the worst life can offer…. Read More »

Topics: Living With Gaucher Disease, Patient Journeys

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 »

Topics: About Gaucher Disease, Gaucher Disease Research

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 »

Topics: Gaucher Disease Research

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