Friedreich's Ataxia Research Conference

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DESCRIPTION (provided by applicant): The identification of the disease gene in 1996 revolutionized the study of Friedreich's ataxia (FRDA). Within three years, the mutational mechanism was elucidated and the encoded protein localized to mitochondria. Iron metabolism and oxidative stress were implicated in the pathophysiology. Model systems in lower eukaryotes were developed and findings in these systems were starting to be tested in human cells. Small, pilot clinical trials of lipid-soluble antioxidants were begun. Since our first international FRDA conference in 1999, clinical trials of lipid-soluble antioxidants have expanded in number and scope. Mouse models of FRDA have been developed 'that are suitable for drug testing. Testing has begun on various modalities to follow disease 'progression and response to therapy. And the ability of the Yeast Frataxin Homologue (YFH1 p) to form higher-order muitimers was discovered. The primary justification for a conference on FRDA at this time is the extraordinarily rapid profusion of new information and the eclecticism of the research relevant to FRDA. In addition, a deeper understanding of the precise function of frataxin has implications not only for the treatment of FRDA, but also for a better understanding of ataxias in general, of hypertrophic cardiomyopathies, and of non-insulin-dependent diabetes mellitus. 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. The specific objectives are to review and discuss the status of knowledge, and assess future research options, in the following areas: 1) The FRDA disease gene, 2) the FRDA protein, 3) basic sciences relevant to FRDA, 4) cellular pathophysiology of FRDA, 5) FRDA models, 6) clinical studies and outcome measures, and 7) therapeutic approaches.