Scientific and Medical Meetings about Barth syndrome

关于巴特综合征的科学和医学会议

• 批准号: 7909798
• 负责人: Matthew J Toth
• 金额: $ 2.5万
• 依托单位: BARTH SYNDROME FOUNDATION
• 依托单位国家: 美国
• 财政年份: 2010
• 资助国家: 美国
• 起止时间: 2010-05-01 至 2011-04-30
• 项目状态: 已结题
• 来源: https://reporter.nih.gov/project-details/7909798
• 关键词: 3-Methylglutaconic aciduria type 2; Advocacy; Ally; Area; Biochemical Genetics; Cardiomyopathies; Clinical; Clinical Trials; Collaborations; Communication; Communities; Disease; Evaluation; Fostering; Foundations; Functional disorder; Future; Genes; Goals; Individual; Link; Medical; Morbidity - disease rate; Neutropenia; Orphan Disease; Outcome; Pathology; Patients; Physicians; Publications; Research; Scientific Advances and Accomplishments; Scientist; Series; Symptoms; Testing; Therapeutic; Translational Research; Work; X-Linked Genetic Diseases; improved; meetings; mortality; patient population; public health relevance; treatment strategy

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.

描述（由申请人提供）： 该会议系列的目标是：1）将所有主要的医师和科学家汇集在一起​​，在国际上研究有关Barth综合征的主要生化，遗传和临床问题，2），2）促进跨学科讨论，以促进工作合作，并帮助设置工作未来研究的议程，重点是寻找Barth综合征的治疗方法，3）提供一个论坛，以深入评估Barth综合征的治疗策略，以便可以在临床上进行有效和特定的治疗，并在临床上进行测试和测试如果发现有前途，则实施4）促进与巴特综合症直接相关的材料的交流和发表。以前关于该主题的会议预示着几项重大的科学进步，但将塔法奇蛋白基因的功能障碍与这种罕见的X连锁遗传疾病的某些病理联系起来证明难以捉摸。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，以鼓励想法改善这些人的临床结果。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，这些特定地区的临床进步将对这些患者以及具有相似病理相似的较大患者造成直接和长期益处。这些科学/医学信息的交流使Barth综合征研究社区接近转化研究点，在该研究点可以进行特定的治疗选择，可以筛选潜在的药理学化合物，并最终提出临床试验。我们希望这些会议将有助于满足这些未满足的医疗需求。公共卫生相关性：患有孤儿疾病的人，例如巴特综合症，几乎没有盟友找到治疗或治愈痛苦的人。诸如巴特综合基金会公司（Barth Syndrome Foundation Inc.）这样的疾病倡导团体已经意识到，通过鼓励高质量的科学和医学会议，可以进步来实现这一目标。 这些会议增强并传播了寻找针对巴特综合征的特定治疗方法的进展，这可能会有利地影响其他症状相似的人口更为有利的医疗状况。