Category: About Gaucher Disease

The Founder Effect’s Influence on Jewish Genetic Diseases

Among groups of people worldwide, genetic variation plays a key role in the prevalence of certain genetic diseases like Gaucher disease. Genetic diseases can affect anyone, but in some groups, certain diseases are more common compared to others. This can be attributed to genetic drift, or how frequently various genotypes (genetic makeups) appear in populations of individuals.

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 »

WORLDSymposium Highlights Key Gaucher Disease Research Insights

In February 2018, attendees from around the world met in San Diego for the 14th annual WorldSymposium, a research conference focused exclusively on the latest discoveries related to lysosomal diseases. Doctors and scientists met for three days to present and discuss cutting-edge research findings that may help change the diagnostic and treatment process for a variety of lysosomal diseases, including Gaucher disease.

Rare Disease Awareness

Written by Wayne Rosenfield, PhD She was a beautiful child. She was so good-looking that her cuteness was almost a caricature. Her blonde hair fell straight onto her shoulders, with bangs that were cut to reveal her forehead, accentuating her big blue eyes. Her nose was small and turned up ever so slightly. She was petite,… Read More »

Resiliency and Gaucher Disease: Promoting Positive Outlooks and Outcomes

There is no standard definition for “resiliency” as it applies to medical science. But most healthcare providers view resiliency as the ability to “bounce back” after a setback. Resilience means you adapt easily to change and negative circumstances. Drawing from your own inner strength, you respond to stress and new situations in a positive and… 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.

[Podcast] Gaucher Disease and U.S. Health Insurance

This month’s premier podcast is focused on the basics of U.S. health insurance and how it affects Gaucher patients and their families. We spoke to Aviva Rosenberg, a healthcare attorney from Pittsburgh, Pennsylvania. She is passionate about educating people on genetic diseases and screening, as well as sharing her journey with Gaucher disease, and being… Read More »

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 »

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 »

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 »

Stay in Touch with NGF

Learn about the latest research, news and events.