3rd International Friedreich's Ataxia Scientific Conference

第三届国际弗里德赖希共济失调科学会议

• 批准号: 7224859
• 负责人: ROBERT B WILSON
• 金额: $ 3.5万
• 依托单位: FRIEDREICH'S ATAXIA RESEARCH ALLIANCE
• 依托单位国家: 美国
• 财政年份: 2007
• 资助国家: 美国
• 起止时间: 2007-03-01 至 2008-02-29
• 项目状态: 已结题
• 来源: https://reporter.nih.gov/project-details/7224859
• 关键词: Cardiomyopathies; Clinical Research; Clinical Trials; Collaborations; Condition; DNA Sequence; Diabetes Mellitus; Discipline; Disease; Equilibrium; Fostering; Friedreich Ataxia; Functional disorder; Gene Proteins; Genes; Individual; Inherited; International; Introns; Limb structure; Mitochondria; Muscle Weakness; Mutation; Nature; Numbers; Oxidative Stress; Participant; Patients; Proteins; Research; Research Personnel; Scientific Advances and Accomplishments; Sensory; Speech; Staging; Therapeutic; Time; Trinucleotide Repeats; abstracting; base; day; direct application; drug development; frataxin; hearing impairment; improved; interest; scoliosis; symposium

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.

描述（由申请人提供）：Friedreich共济失调（FRDA）是一种遗传状况，会导致所有四个四肢的平衡和协调逐渐丧失，声音丧失，感觉丧失和肌肉无力。大多数患者发现脊柱侧弯和心肌病，大约10-15％的个体存在糖尿病和听力损失。目前尚无FRDA批准的疗法。 FRDA是由FRDA基因的第一个内含子中的DNA序列的扩展，特别是GAA三胞胎重复引起的。自1996年鉴定出疾病基因以来，了解遗传缺陷的性质以及理解相关蛋白质Frataxin的功能的进展非常迅速，以至于不到10年后，现在正在追求大量治疗可能性。第三届国际弗里德里希（Friedreich）的共济失调科学会议将使领先的研究人员聚集在与疾病基因，蛋白质，病理生理学和药物开发有关的科学进步上，这导致了近期治疗。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，以确定有希望的新途径，以促进该领域的研究人员之间的合作，并协调临床研究和临床试验的方法。我们组建了一个科学组织委员会，该委员会由三名著名的FRDA研究人员组成，他们确定了关键的会议参与者。该委员会提出了为期两天半的议程，该议程被分解为基于主题的会议。每个会话将包括相关研究的简要介绍，然后进行调节。邀请和抽象提交请求将发送给主要参与者，也将鼓励关键参与者建议代表具有协作特殊兴趣的新调查员或研究人员的其他邀请人。由于新信息的迅速大量，这次会议的时间至关重要。此外，目前正在进行或处于关键的计划阶段，针对氧化应激，改善线粒体功能的临床试验以及提高的FRDA蛋白质可用性。这些治疗方法的进步将直接应用于FRDA的患者以及其他线粒体和三胞胎重复条件的人。第三届国际弗里德里希（Friedreich）的共济失调科学会议将使领先的研究人员聚集在与疾病基因，蛋白质，病理生理学和药物开发有关的科学进步上，这导致了近期治疗。目前正在进行或在关键的计划阶段中，针对氧化应激，改善线粒体功能的临床试验以及提高的FRDA蛋白质可用性。这些治疗方法的进步将直接应用于FRDA的人以及其他罕见和常见疾病的人。