The identification in 1996 of the FRDA gene, which encodes the protein frataxin, revolutionized the study of Friedreich's Ataxia. In the two years since, iron metabolism, reactive oxygen species, and reduced mitochondrial function have been implicated in the underlying pathophysiology. Model systems in lower organisms have been developed and findings in these systems are being tested in human cell culture models and in patients themselves. Therapeutic clinical trials of iron chelators and/or antioxidants are being considered, and various modalities are being developed to follow disease progression and response to therapy. The primary justification for a conference on Friedreich's Ataxia at this time is the extraordinarily rapid profusion of new information and the eclecticism of the research relevant to Friedreich's Ataxia. In addition, a deeper understanding of the precise function of frataxin has implications not only for the treatment of Friedreich's Ataxia, 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 Friedreich's Ataxia, 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) GAA repeat expansions, 2) pathology of Friedreich's Ataxia, 3) frataxin and pathogenesis (including biochemistry, studies in lower organisms, studies in cultured mammalian cells, and mammalian animal models), 4) patient/clinical studies, and 5) therapeutic approaches.
