Friedreich's Ataxia Research Conference

描述（由申请人提供）： 1996年对该疾病基因的鉴定彻底改变了弗里德赖希共济失调（FRDA）的研究。在三年内，突变机制被阐明，编码的蛋白质定位于线粒体。铁代谢和氧化应激与病理生理学有关。低等真核生物的模型系统被开发出来，这些系统中的发现开始在人类细胞中进行测试。脂溶性抗氧化剂的小规模临床试验已经开始。自1999年第一次国际FRDA会议以来，脂溶性抗氧化剂的临床试验在数量和范围上都有所扩大。已经开发出适合药物测试的FRDA小鼠模型。已经开始对各种模式进行测试，以跟踪疾病的进展和对治疗的反应。并发现了酵母Frataxin同系物（YFH 1 p）形成高阶多聚体的能力。在这个时候召开一次关于FRDA的会议的主要理由是新信息的异常迅速的丰富和与FRDA相关的研究的折衷主义。此外，更深入地了解共济失调蛋白的确切功能不仅对FRDA的治疗有意义，而且对更好地了解共济失调、肥厚性心肌病和非胰岛素依赖型糖尿病也有意义。拟议会议的总体目标是整合与FRDA相关的各个研究学科的最新信息，确定有前途的新研究途径，促进该领域研究人员之间的合作，并协调临床研究和临床试验的方法。具体目标是审查和讨论知识的现状，并评估未来的研究选择，在以下领域：1）FRDA疾病基因，2）FRDA蛋白，3）与FRDA相关的基础科学，4）FRDA的细胞病理生理学，5）FRDA模型，6）临床研究和结果测量，7）治疗方法。

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.