Scientific and Medical Meetings about Barth syndrome

描述（由申请人提供）： 这一系列会议的目标是：1）汇集所有主要的医生和科学家在国际上工作的主要生化，遗传和临床问题的巴特综合征，2）促进跨学科的讨论，促进工作合作，并帮助制定议程，为未来的研究，重点是寻找治疗巴特综合征，3）提供一个论坛，深入评估Barth综合征的治疗策略，以便提出有效和具体的治疗方法，进行临床试验，并在发现有希望时实施，以及4）促进与Barth综合征直接相关的材料的交流和出版。以前关于这个主题的会议已经预示了几个重大的科学进展，但是将tafazzin基因的功能障碍与这种罕见的X连锁遗传病的一些病理联系起来已经被证明是难以捉摸的。仍然需要更全面地了解tafazzin功能障碍如何导致Barth综合征的症状，以鼓励改善这些个体临床结果的想法。心肌病和中性粒细胞减少症是Barth综合征发病率和死亡率的主要原因，这些特定领域的临床进展将对这些患者以及具有类似病理的较大患者人群产生直接和长期受益。在这些科学/医学信息交流的推动下，巴斯综合征研究界正在接近一个转化研究点，在这个点上，特定的治疗选择是可能的，潜在的药理学化合物可以被筛选，并且最终可能会提出临床试验。我们期望这些会议将有助于满足这些未得到满足的医疗需求。公共卫生相关性：患有孤儿病（如巴特综合征）的个体在寻找治疗或治愈其痛苦方面几乎没有盟友。疾病倡导组织，如巴斯综合征基金会，我们认识到，通过鼓励高质量的科学和医学会议，可以朝着这一目标迈进。 这些会议加强和传播了在寻找巴斯综合征的具体治疗方法方面取得的进展，这可能会有利地影响其他具有类似症状的人口更多的医疗条件。

DESCRIPTION (provided by applicant): The objectives of this meeting series are: 1) to bring together all the principal physicians and scientists working internationally on the major biochemical, genetic and clinical questions about Barth syndrome, 2) to foster interdisciplinary discussion, to promote working collaborations and to help set the agenda for future research that focuses on finding treatments for Barth syndrome, 3) to provide a forum for an in-depth evaluation of strategies for the treatment of Barth syndrome so that effective and specific therapy(s) can be suggested, tested clinically, and implemented if found promising, and 4) to promote the communication and publication of material directly relevant to Barth syndrome. Previous meetings on this topic have heralded several significant scientific advances, but linking the dysfunction of the tafazzin gene with some of the pathologies of this rare X-linked genetic disease has proven elusive. A more comprehensive understanding of how tafazzin dysfunction leads to the symptoms of Barth syndrome is still needed to encourage ideas for improving the clinical outcome for these individuals. Cardiomyopathy and neutropenia are the main causes of morbidity and mortality in Barth syndrome, and clinical advancements in these particular areas will be of immediate and long term benefit to these patients as well as to the larger patient populations with similar pathologies. Invigorated by these exchanges of scientific/medical information, the Barth syndrome research community is nearing a translational research point where specific therapeutic options are possible, where potential pharmacological compounds can be screened for, and where clinical trials may eventually be proposed. We expect that these meetings will serve to help satisfy these unmet medical needs. PUBLIC HEALTH RELEVANCE: Individuals with an orphan disease such as Barth syndrome have few allies in finding a treatment or a cure for their affliction. Disease advocacy groups, like Barth Syndrome Foundation Inc., have realized that advancement towards this goal is possible by encouraging quality scientific and medical meetings. These meetings enhance and disseminate the progress made towards finding a specific treatment for Barth syndrome which may advantageously impact other more populated medical conditions with similar symptoms.