Gaucher Disease
So don’t ever let people discount why research into rare disorders is so important - Ellen Sidransky MD
image by: Eiichi Ohmura
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Parkinsons Gaucher story by Ellen Sidransky M.D.
As a physician and a scientist, I study a rare disorder, Gaucher disease. I have been motivated to continue to study Gaucher disease for the past 25 years because I feel that our understanding of basic aspects of this disorder are still lacking, and that my patients with Gaucher disease, whom I have grown to know and love, will benefit from these discoveries.
Unexpected Association – However during the past 10 years, a discovery made in the Gaucher clinic has shown that studying a rare disorder can also have far broader implications. We noted that a few of our patients with Gaucher disease developed symptoms of Parkinson disease. This was a relatively rare…
Resources
Can gene therapy halt diseases in babies before they’re even born?
But Waddington’s enthusiasm in part stems from a study published last week in which he and colleagues transferred a corrective gene in a fetal mouse model of a severe form of Gaucher disease — a condition in which the body doesn’t produce a key enzyme that breaks down a certain fat. They found that affected mice that were treated with a gene therapy in utero were in many ways indistinguishable from their littermates that did not have the disease.
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.
Living with Gaucher: Emily Filomena Schiavone
We were told she had Leukemia, we were devastated. After that was revealed we were told the diagnosis was “premature” that Emily had a “Storage Disease” and to see a geneticist which we did. DNA studies were done and one of the findings was Gauchers Type 3.
What is Gaucher Disease?
The availability of enzyme replacement therapy (ERT) has revolutionized the status of Gaucher disease because it is deemed both safe and very effective.
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.
Parkinsons Gaucher story by Ellen Sidransky M.D.
So don’t ever let people discount why research into rare disorders is so important. Discoveries related to one group of diseases are likely to have benefit not only for the small patient population so needing the research, but advances and treatments can have important implications for others with far more common disorders.
Children’s Gaucher Research Fund
Our mission is to raise funds and unite families to find a cure for Type 2 and Type 3 Gaucher Disease (GD2/3).
Gaucher Care
This web site has been created for people living with Gaucher, their friends and families, and health care professionals.
National Gaucher Foundation
A small group of families founded the NGF in 1984 to help develop treatments and a cure for Gaucher disease. They believed that patients should have more information and support in understanding the disease and finding new ways to treat it.
Cerdelga
CERDELGA is a glucosylceramide synthase inhibitor indicated for the long-term treatment of adult patients with Gaucher disease type 1 who are CYP2D6 extensive metabolizers (EMs), intermediate metabolizers (IMs), or poor metabolizers (PMs) as detected by an FDA-cleared test.
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