Scientific and Medical Conference about Barth Syndrome

描述(由申请人提供)： 这次国际会议的具体目的是确定并提出建议，以克服那些阻碍寻找针对Barth综合征(BTHS)患者的有效临床疗法方面的进展的临床和科学挑战。这次会议将通过以下方式应对这些挑战：1)将致力于BTHS的生化、遗传和临床问题的医生、保健提供者和科学家聚集在一起讨论他们的工作；2)增加参与BTHS或BTHS个人的研究人员和医生的数量；3)促进跨学科讨论，促进工作合作，并为推进BTHS的特定疗法制定议程；4)提供一个论坛来评估这些特定的疗法；以及5)促进BTHS相关材料的交流和出版。这一系列的以前的会议已经预示了重大的科学进步，但仍然难以捉摸的是，我们所知道的他法津基因(与BTHS相关的基因)功能障碍的临床转化为特定的治疗方法。尽管自上次会议以来已经取得了进展，但仍然需要更全面地了解他法津功能障碍如何导致发病率和死亡率。在这些两年一次的科学/医学信息交流的鼓舞下，2014年，BTHS研究界现在可以更详细地指出和讨论以下与临床相关的成就/研究：指定孤儿药物苯扎贝特、使用苯扎贝特和白藜芦醇进行临床研究的计划、营养疗法、酶替代疗法、心磷脂替代疗法、高通量筛选药理化合物，以及完成两项运动临床研究。我相信，这些两年一度的会议通过直接鼓励参与的研究人员，加快了临床上重要进展和科学成就的时间表。这些会议聚集了关键的科学家和临床医生，他们可以将积累的研究知识转化为潜在的治疗方法，同样关键的是，他们还可以在BTHS危及生命的问题的背景下评估这些治疗方法。除了英国医学基金会的科学和医学咨询委员会，没有其他论坛可以对治疗想法进行坦率和重要的讨论。由于每年有BTHS患者死于这种疾病，我们需要这些会议来交流/讨论成就，以促进新的临床和科学进步(从病床到床边)，并鼓励科学医学界。

DESCRIPTION (provided by applicant): The specific aims of this international conference are to identify and suggest ways to overcome those clinical and scientific challenges that are hindering progress in finding effective clinical therapies specific for Barth syndrome (BTHS) individuals. This conference will address these challenges by: 1) bringing together the physicians, healthcare providers, and scientists working on the biochemical, genetic, and clinical questions about BTHS to discuss their work; 2) increasing the number of researchers and physicians involved with BTHS or BTHS individuals; 3) fostering interdisciplinary discussion, promoting working collaborations, and setting the agenda for advancing specific therapies for BTHS; 4) providing a forum to evaluate these specific therapies; and 5) promoting the communication and publication of BTHS related material. Previous conferences in this series have heralded significant scientific advances, but what remains elusive is the clinical translation of what we know about the dysfunction of the tafazzin gene (the gene linked with BTHS) into specific therapies. Though progress has been made since the last Conference, a more comprehensive understanding of how tafazzin dysfunction leads to the morbidity and mortality is still needed. Invigorated by these biennial exchanges of scientific/medical information, for 2014 the BTHS research community can now point to and discuss in more detail the following clinically-relevant accomplishments/studies: the orphan- drug designation of bezafibrate, the plans for clinical studies with bezafibrate and resveratrol, nutritional therapy, enzyme replacement therapy, cardiolipin replacement therapy, screening of pharmacological compounds in a high throughput format, and the completion of two exercise clinical studies. I believe that these biennial Conferences have accelerated the timeframe of clinically important advancements as well as scientific accomplishments by directly encouraging the researchers involved. These meetings bring together the key scientists and clinicians who can translate the accumulated research knowledge into potential treatments, and just as critically, who also can evaluate these treatments in the context of the life-threatening problems of BTHS. Aside from the Scientific and Medical Advisory Board of the BSF, there is no other forum where frank and important discussion about therapeutic ideas can meaningfully take place. Because BTHS individuals die each year from this disease, we need these conferences to communicate/discuss accomplishments, to stimulate new clinical and scientific progress (bench to bedside), and to encourage the scientific-medical community.