3rd International Friedreich's Ataxia Scientific Conference

描述(申请人提供)：Friedreich共济失调(FRDA)是一种遗传性疾病，导致四肢逐渐失去平衡和协调，说话含糊，感觉丧失和肌肉无力。大多数患者会出现脊柱侧弯和心肌病，大约10%-15%的患者会出现糖尿病和听力损失。目前还没有批准的治疗FRDA的方法。FRDA是由FRDA基因第一内含子中DNA序列的扩展，特别是GAA三联体重复引起的。自1996年确定疾病基因以来，在了解遗传缺陷的性质和了解相关编码蛋白Frataxin的功能方面取得了如此迅速的进展，以至于不到10年后，现在正在探索大量的治疗可能性。第三届国际Friedreich‘s共济失调科学会议将把领先的研究人员聚集在一起，集中讨论与疾病基因、蛋白质、病理生理学和药物开发有关的科学进展，这些进展导致了近期的治疗。拟议会议的总体目标是整合与FRDA相关的各种研究学科的最新信息，确定有前景的研究新途径，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。我们已经召集了一个由三位著名的FRDA研究人员组成的科学组织委员会，他们已经确定了关键的会议参与者。该委员会提出了两天半的议程，分为基于主题的会议。每节课将包括对相关研究的简要介绍，然后进行一次讨论。摘要提交的邀请和请求将发送给主要参与者，还将鼓励主要参与者建议代表新的研究人员或具有合作特殊兴趣的研究人员的其他受邀者。由于新信息的迅速涌现，这次会议的时机至关重要。此外，针对氧化应激、改善线粒体功能和增加FRDA蛋白质可获得性的临床试验目前正在进行中或处于关键规划阶段。这些治疗方法的进展将直接应用于FRDA患者以及其他线粒体和三联体重复疾病患者。第三届国际Friedreich‘s共济失调科学会议将把领先的研究人员聚集在一起，集中讨论与疾病基因、蛋白质、病理生理学和药物开发有关的科学进展，这些进展导致了近期的治疗。针对氧化应激、改善线粒体功能和增加FRDA蛋白质利用率的临床试验目前正在进行中，或处于关键规划阶段。这些治疗方法的进展将直接应用于FRDA患者以及其他罕见和常见疾病的患者。

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.