Author: National Gaucher Foundation

It’s All in the Family: How We Can Use our Heritage to Find a Cure for Parkinson’s Disease

Individuals with Gaucher disease and those with Parkinson’s disease can share a common link: mutations in the GBA gene. Identifying and evaluating people who carry a GBA mutation, whether they have Gaucher disease or PD or are related to someone living with one of these diseases, is vital to helping scientists learn more and develop… Read More »

Gaucher and Other Rare Genetic Disease Diagnosis

The Gaucher disease diagnostic journey can be long, but new diagnostic aids offer hope for a faster, more accurate process.

Gaucher Disease Screening vs. Testing

Gaucher disease affects up to 6,000 people living in the United States. This rare disorder results from certain genetic mutations that occur on the GBA1 gene. In fact, more than 400 possible mutations can be present on this gene, and while some are more common than others, all can lead to the development of Gaucher… Read More »

Psychosocial Impacts of Living with Gaucher Disease

Doctors and scientists have already made tremendous progress in the diagnosis and treatment of rare diseases, including Gaucher disease. However, many patients and families still experience a significant psychosocial burden. Often, those living with the disease must become their own “disease experts” as they navigate the healthcare landscape, deal with significant financial challenges, and learn… Read More »

[Video] Meet Nate: Gaucher Disease Patient Journey

For 10 years, Nate struggled to receive a diagnosis for his excruciating bone pain. He was finally diagnosed with Gaucher disease and made a miraculous recovery.

The 5 Most Common Ashkenazi Genetic Diseases

According to current estimates, as many as one in three Ashkenazi Jews, those with Eastern European descent, are carriers for certain genetic diseases, including Gaucher disease. Researchers think Ashkenazi genetic diseases arise because of the common ancestry many Jews share. While people from any ethnic group can develop genetic diseases, Ashkenazi Jews are at higher… Read More »

Should your Medical History be in the International Gaucher Registry?

When it comes to improving Gaucher disease treatment, knowledge is power. The more data the medical community can gather on this rare condition, the better equipped they are to develop new ways of treating it. That’s where the International Collaborative Gaucher Group (ICGG) Gaucher Registry comes in. Launched in 1991, and directed by an international… Read More »

ERTs and SRTs: How They Work & What is New

For those whose lives are touched by Gaucher disease types 1 and 3, ERT (enzyme replacement therapy) and SRT (substrate reduction therapy) are often part of their regular routines. But in 1991, when the FDA approved the first form of ERT, this breakthrough felt miraculous, radically easing the disease’s signs and symptoms. This was followed… 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 »

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 »

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