Scientific and Medical Conference about Barth syndrome

描述(由申请人提供)： 这次国际会议将：1)汇聚致力于Barth综合征的重大生化、遗传学和临床问题的主要医生和科学家；2)增加参与Barth综合征的研究人员和医生的数量；3)促进与会者之间的跨学科讨论，以促进合作，并帮助设定研究议程，建议Barth综合征的具体治疗方法；4)提供一个论坛，评估这些特定的治疗方法；5)促进与Barth综合征直接相关的材料的交流和出版。 这一系列的前几次会议预示着几项重大的科学进步。仍然难以捉摸的是，我们所知道的他法津基因(与Barth综合征相关的基因)功能障碍的临床转化为一种特定的治疗方法(S)。仍然需要更全面地了解他法津缺乏如何导致与Barth综合征相关的发病率和死亡率。 在这些两年一次的科学/医学信息交流的鼓舞下，Barth综合征研究界现在可以指出与临床相关的成就和许多重要的科学成就。这些两年一度的会议通过直接鼓励参与Barth综合征的特定研究人员和医生，加快了这些进展的时间框架。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，也可以在Barth综合征的危及生命的问题的背景下评估这些治疗方法。除了BSF的科学和医学咨询委员会外，没有其他论坛可以有意义地进行这一重要讨论。因为每年都有Barth综合征患者死于这种疾病，我们需要这些会议来交流/讨论成就，刺激新的进展，并鼓励科学和医学界。 患有巴思综合征等孤儿疾病的人在寻求治疗或治愈他们的痛苦方面几乎没有盟友。患者权益倡导团体，如巴思综合征基金会公司，已经意识到通过鼓励高质量的科学和医学会议来促进实现这一目标的进展。这些关于Barth综合征的会议加强和传播了在寻找特定治疗方法方面取得的进展，这种治疗方法可能会有利地影响具有类似症状的其他人口较多的疾病。

DESCRIPTION (provided by applicant): This international conference will: 1) bring together the principal physicians and scientists working on major biochemical, genetic, and clinical questions about Barth syndrome; 2) increase the number of researchers and physicians involved with Barth syndrome; 3) foster interdisciplinary discussion among the attendees in order to promote working collaborations and to help set the agenda for research that suggests specific therapies for Barth syndrome; 4) provide a forum to evaluate these specific therapies; 5) promote the communication and publication of material directly related to Barth syndrome. Previous conferences in this series have heralded several significant scientific advances. What remains elusive is the clinical translation of what we know about the dysfunction of the tafazzin gene (the gene linked with Barth syndrome) into a specific therapy(s). A more comprehensive understanding of how tafazzin deficiency leads to the morbidity and mortality associated with Barth syndrome is still needed. Invigorated by these biennial exchanges of scientific/medical information, the Barth syndrome research community can now point to clinically-relevant accomplishments and many significant scientific achievements. These biennial Conferences accelerate the timeframe of these advancements by directly encouraging the specific researchers and physicians involved with Barth syndrome. These meetings bring together the key scientists and clinicians who can translate the accumulated research knowledge into potential treatments and who also can evaluate these treatments in the context of the life-threatening problems of Barth syndrome. Aside from the Scientific and Medical Advisory Board of the BSF, there is no other forum where this important discussion can meaningfully take place. Because Barth syndrome individuals die each year from this disease, we need these Conferences to communicate/discuss accomplishments, to stimulate new progress, and to encourage the scientific-medical community. Individuals with an orphan disease such as Barth syndrome have few allies in the quest to find a treatment or a cure for their affliction. Patient advocacy groups, like the Barth Syndrome Foundation Inc., have realized that progress towards obtaining this goal is facilitated by encouraging quality scientific and medical meetings. These meetings or conferences about Barth syndrome enhance and disseminate the progress made towards finding a specific treatment which may advantageously impact other more populated medical conditions with similar symptoms.