The Science and Medicine of Barth Syndrome: The Remaining Big Questions

巴斯综合症的科学和医学：剩下的大问题

• 批准号: 7161962
• 负责人: RICHARD Ian KELLEY
• 金额: $ 3.5万
• 依托单位: HUGO W. MOSER RES INST KENNEDY KRIEGER
• 依托单位国家: 美国
• 财政年份: 2006
• 资助国家: 美国
• 起止时间: 2006-08-01 至 2007-07-31
• 项目状态: 已结题
• 来源: https://reporter.nih.gov/project-details/7161962
• 关键词: genetic disorder; meeting /conference /symposium; syndrome; travel

DESCRIPTION (provided by applicant): Barth syndrome is a rare but serious X-linked, multi-system genetic disorder affecting only males and having cardinal characteristics of dilated cardiomyopathy, neutropenia, muscle hypoplasia, weakness, growth retardation, and an essentially complete deficiency of tetralinoleoyl cardiolipin, the major phospholipid of the mitochondrial inner membrane. Although survival in Barth syndrome has improved with wider recognition of the syndrome and earlier diagnosis, affected boys and men remain at risk of potentially lethal complications, including heart failure, ventricular arrhythmias, and overwhelming bacterial infections. Moreover, despite the discovery of mutations in the TAZ gene as the cause of Barth syndrome almost ten years ago, there remains little understanding of the link between the deficiency of the TAZ acyltransferase, "tafazzin" and its multiple disease effects. As a result, treatment of Barth syndrome today remains strictly supportive, as it was 25-years ago. The Barth Syndrome Foundation, under joint sponsorship with Kennedy Krieger Institute, will hold its third International Family and Scientific Conference from July 4 to July 8, 2006, in Lake Buena Vista, Florida. The core of this meeting will be a 2-1/2 day scientific conference on the biochemistry, biology, and medical problems of Barth syndrome. The objective of the scientific portion of the meeting is to bring together all principal physicians and scientists working on the important biochemical and clinical questions that must be answered before truly effective therapies for Barth syndrome can be achieved. The scientific meeting will be divided into five sections, focusing on 1) the biochemistry of tafazzins, 2) identifying clinical biochemical markers of Barth syndrome and designing in vitro methods to test therapies, 3) the pathophysiology and management of neutropenia, 4) the pathophysiology and management of Barth cardiomyopathy and arrhythmia, and 5) the development of comprehensive treatment guidelines for Barth syndrome. We anticipate that this in-depth examination of tafazzin biochemistry and the disease its deficiency causes will set the research agenda for Barth syndrome for at least the next 5 years and aid in the development of new strategies for its treatment.

描述（由申请人提供）：