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Prof. Jacques P. TremblayCAFA IS LAUNCHING A MAJOR RESEARCH PROJECT

August 25, 2010 - Friedreich ataxia is caused by a mutation of the frataxin gene. This mutation triggers a decrease in the production of frataxin in all the patient’s cells. Frataxin plays an important role in the metabolism of iron at the mitochondrial level and its reduction brings about the death of many cells in the brain, heart, muscles and pancreas. This cell death is responsible for the many symptoms of the illness.

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USF Health's Dr. Stephen Klasko said significant advances in research toward finding treatments for FA had been made since last year's scientific symposium.News kindly supplied by Juan Carlos Baiges through Internaf and FAPG

August 30, 2010 - With all the significant scientific advancements presented, at the end of the symposium it was the people with Friedreich’s ataxia who gave the research meaning and value.
They were people like Holly LeBlanc, who for eight months traveled back and forth from Holland, MI, to USF to participate in a pilot clinical trial testing effects of the drug varenicline on neurological symptoms of Friedreich’s ataxia.  She was back again August 26, with her mother and service dog Delsie, to attend the second annual scientific symposium hosted by the Friedreich’s Ataxia Research Alliance (FARA) and the USF Ataxia Research Center.