The National Gaucher Foundation just announced our first Ambassador cohort. Meet the elite group below. We asked…”What inspires you to live a better today?” Kelly Burns Rhode Island “Choosing what I love, and what inspires me to live a better today, is family. Family has been behind a lot of major changes recently in my… Read More »
Orphan drugs are expensive, and recent changes to the Orphan Drug Act may up the price even more. Find out how to take action and make your voice heard.
Precision medicine could help enhance and direct treatment for Gaucher disease. But it might be challenging to obtain detailed genetic information from people living with Gaucher disease.
A Gaucher specialist is an expert in diagnosing and treating Gaucher disease. Having this specialist on your care team is essential to receiving the best treatment possible. NGF can help you find a Gaucher specialist.
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 »
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.
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 »
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.
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 »
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 »