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Research Progress Fuels Preparations for "Friedreich's Ataxia Awareness Day"

Washington, D.C. — Friedreich's ataxia patients, families, and their communities eagerly welcome the approach of "Friedreich's Ataxia Awareness Day" on May 16th. The third Saturday of May is recognized i n Congressional and state proclamations and various activities across the country as "Friedreich's Ataxia Awareness Day.” Friedreich’s ataxia (FA) is a degenerative, neuromuscular disease that gradually robs patients of their ability to walk, compromises speech, hearing, and vision, and often comes with complications of serious diabetes and he art disease.

Following the identification of the Friedreich’s ataxia gene in 1996, research scientists have learned a great deal about the disorder. We now know what defects in the gene cause the disease, what protein the gene is supposed to produce, what that protein is supposed to accomplish, and why a shortage of the protein results in the cell death that leads to the disease symptoms. With this knowledge, researchers are better equipped to focus treatment development at the causes of the disease with the aim to slow, stop and reverse the effects of Friedreich’s ataxia.

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