Gaucher Disease

So don’t ever let people discount why research into rare disorders is so important - Ellen Sidransky MD

Gaucher Disease
Gaucher Disease

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…

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Resources

 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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