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I am doing a report on Tay Sachs disease, and I was wondering if you could tell me what scientists and researchers are doing to help people with Tay Sachs. Thanks!
Question Date: 2005-01-05
Answer 1:

Just to start with an introduction to your request let me mention something that I found on the Internet, and that can be interesting for you:

Tay-Sachs disease is a fatal genetic lipid storage disorder in which harmful quantities of a fatty substance called ganglioside GM2 build up in tissues and nerve cells in the brain. The condition is caused by insufficient activity of an enzyme called beta-hexosaminidase A that catalyzes the biodegradation of acidic fatty materials known as gangliosides. Gangliosides are made and biodegraded rapidly in early life as the brain develops.

As you probably know, presently there is no treatment for Tay Sachs disease, but there are several researchers working to help people with it. For instance, The National Institute of Neurological Disorders and Stroke (NINDS), a part of the National Institutes of Health (NIH), conducts research about Tay-Sachs disease in laboratories at the NIH. They also support additional research through grants to major medical institutions across the country.

March of Dimes are also working in helping research for Tay Sachs disease. They have helped pinpoint the various mutations in the hex A gene that are responsible for the rare forms of hex A deficiency. It is this information about specific mutations that leads to improved diagnosis and carrier screening for all forms of Tay-Sachs.

The March of Dimes also supports many grants for research on gene therapy, in which scientists transfer a normal gene into cells to replace an abnormal or missing gene. The goal is to cure or alleviate the symptoms of certain genetic diseases. This revolutionary new form of treatment is being tested in patients with several genetic diseases and, eventually, this approach also may hold promise for children with Tay-Sachs.

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