3rd International Friedreich's Ataxia Scientific Conference

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DESCRIPTION (provided by applicant): Friedreich ataxia (FRDA) is a hereditary condition that causes a progressive loss of balance and coordination of all four limbs, slurred speech, sensory loss, and muscle weakness. Scoliosis and cardiomyopathy are found in most patients and diabetes and hearing loss are present in about 10-15% of individuals. There are currently no approved therapies for FRDA. FRDA is caused by an expansion of the DNA sequence, specifically a GAA triplet-repeat, in the first intron of the FRDA gene. Since the identification of the disease gene in 1996, progress in understanding the nature of the genetic defect and in understanding the function of the associated encoded protein, frataxin, have been so rapid that, less than 10 years later, a large number treatment possibilities are now being pursued. The 3rd International Friedreich's Ataxia Scientific Conference will bring leading researchers together to focus on scientific advances related to the disease gene, protein, pathophysiology and drug development that have led to near-term therapeutics. The overall objectives of the proposed conference are to integrate the most up-to-date information from the various research disciplines relevant to FRDA, to identify promising new avenues for research, to foster collaborations among researchers in the field, and to coordinate approaches to clinical studies and clinical trials. We have assembled a scientific organizing committee of three prominent FRDA researchers who have identified key conference participants. This committee has proposed a two and half day agenda that is broken down into topic based sessions. Each session will consist of brief presentations of relevant research then a moderated discussion. Invitations and requests for abstract submissions will be sent to key participants, also key participants will be encouraged to suggest additional invitees who represent new investigators or researchers with a collaborative special interest. The timing of this conference is crucial due to the rapid profusion of new information. In addition, clinical trials that target oxidative stress, improved mitochondrial function, and increased protein availability for FRDA are currently underway or in critical planning stages. These advances in therapeutic approaches will have direct applications to individuals with FRDA as well as individuals with other mitochondrial and triplet-repeat conditions. The 3rd International Friedreich's Ataxia Scientific Conference will bring leading researchers together to focus on scientific advances related to the disease gene, protein, pathophysiology and drug development that have led to near-term therapeutics. Clinical trials targeting oxidative stress, improved mitochondrial function, and increased protein availability for FRDA are currently underway or in critical planning stages. These advances in therapeutic approaches will have direct applications to individuals with FRDA as well as to individuals with other rare and common diseases.