Scientific and Medical Conference about Barth syndrome

描述（由申请人提供）： 这次国际会议将：1）汇集主要的医生和科学家对主要的生物化学，遗传学，和临床问题的巴特综合征的工作; 2）增加研究人员和医生参与巴特综合征的数量; 3）促进与会者之间的跨学科讨论，以促进工作合作，并帮助制定议程的研究，建议具体的治疗巴特综合征; 4）提供一个论坛来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。 本系列的前几次会议预示了几项重大的科学进展。目前尚不清楚的是，我们对tafazzin基因（与Barth综合征相关的基因）功能障碍的了解如何在临床上转化为特定的治疗方法。仍然需要更全面地了解tafazzin缺乏如何导致与Barth综合征相关的发病率和死亡率。 在这些两年一度的科学/医学信息交流的鼓舞下，巴斯综合征研究界现在可以指出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巴特综合征的特定研究人员和医生来加速这些进步的时间表。这些会议汇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，也可以在巴斯综合征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，没有其他论坛可以进行有意义的重要讨论。由于巴斯综合征患者每年死于这种疾病，我们需要这些会议来交流/讨论成就，刺激新的进展，并鼓励科学医学界。 患有像巴特综合征这样的孤儿病的人在寻求治疗或治愈他们的痛苦方面几乎没有盟友。病人权益组织，如巴斯综合征基金会，已经认识到，鼓励高质量的科学和医学会议有助于实现这一目标。这些关于巴斯综合征的会议或会议加强和传播了在寻找特定治疗方面取得的进展，这可能有利于影响其他具有类似症状的更常见的医疗状况。

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.