Scientific and Medical Conference about Barth syndrome

关于巴特综合征的科学和医学会议

• 批准号: 8311166
• 负责人: Matthew J Toth
• 金额: $ 1.3万
• 依托单位: BARTH SYNDROME FOUNDATION
• 依托单位国家: 美国
• 财政年份: 2012
• 资助国家: 美国
• 起止时间: 2012-05-15 至 2013-04-30
• 项目状态: 已结题
• 来源: https://reporter.nih.gov/project-details/8311166
• 关键词: 3-Methylglutaconic aciduria type 2; Achievement; Ally; Animal Model; Biochemical Genetics; Cardiac; Clinical; Clinical Trials; Collaborations; Communication; Communities; Disease; Fostering; Foundations; Functional disorder; Genes; Goals; Individual; International; Knowledge; Life; Link; Medical; Morbidity - disease rate; Mus; Nutraceutical; Orphan Disease; Physicians; Publications; Rehabilitation therapy; Research; Research Personnel; Scientific Advances and Accomplishments; Scientist; Screening procedure; Series; Symptoms; Translating; Translations; Work; clinically relevant; meetings; mortality; patient advocacy group; symposium

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.

描述（由申请人提供）： 这次国际会议将：1）将主要的生物化学，遗传和临床问题介绍有关Barth综合征的主要医生和科学家； 2）增加与巴特综合征有关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，以促进工作合作，并帮助为研究的研究议程，以提出针对Barth综合征的特定疗法； 4）提供一个评估这些特定疗法的论坛； 5）促进与巴特综合症直接相关的材料的交流和发布。 该系列中的以前会议预示着一些重大的科学进步。仍然难以捉摸的是我们对Tafazzin基因（与Barth综合征相关的基因）的功能障碍的了解的临床翻译。仍然需要更全面地了解Tafazzin缺乏症如何导致与Barth综合征相关的发病率和死亡率。 这些两年一次的科学/医学信息交流使Barth综合征研究社区充满活力，现在可以指出与临床相关的成就和许多重大的科学成就。这些两年一次的会议通过直接鼓励与Barth综合征有关的特定研究人员和医生来加快这些进步的时间表。这些会议汇集了可以将积累的研究知识转化为潜在治疗方法的主要科学家和临床医生，他们也可以在危及生命的巴特综合症问题的背景下评估这些治疗方法。除了BSF的科学和医学顾问委员会外，没有其他论坛可以有意义地进行这一重要讨论。由于Barth综合症患者每年都死于这种疾病，因此我们需要这些会议来交流/讨论成就，刺激新的进步并鼓励科学中的社区。 患有孤儿疾病的人，例如巴特综合症，几乎没有盟友寻求治疗或治愈痛苦。像Barth Syndrome Foundation Inc.这样的患者倡导团体已经意识到，通过鼓励质量的科学和医学会议来促进获得这一目标的进展。这些关于巴特综合征的会议或会议增强并传播了寻找特定治疗方法所取得的进展，该治疗方法可能会影响其他症状类似的人口更为有利的医疗状况。