Diamond Blackfan Anemia International Consensus Conference

描述（由申请人提供）： Diamond Blackfan Anemia International Consensus Conference（DBA-ICC）是唯一的年度论坛，汇集了医生，科学家和其他对先天性骨髓综合征Diamond Blackfan Anemia（DBA）感兴趣的各方。DBA是第一种与核糖体合成失败有关的人类疾病。了解这种罕见疾病的病理生理学需要一种跨学科的方法，将对先天性骨髓衰竭综合征感兴趣的血液学家和对核糖体生物学感兴趣的基础科学家组成的高度专业化的领域汇集在一起。年度DBA-ICC会议营造了一个环境，导致这些不同团体之间的大量合作，为转化研究提供了丰富的滋生地。在过去的10年里，这些会议帮助创造和传播病人护理的进步，以更广泛的医生社区谁可能很少遇到DBA在临床实践中。同样，对DBA潜在分子基础的研究使人们对核糖体在人类疾病中的作用有了更深入的了解，这对包括癌症在内的其他疾病也有影响。DBA研究范围的扩大使新的研究人员进入DBA领域，因此DBA-ICC会议对医生和科学家的受欢迎程度和相关性不断提高。随着年度会议的扩大，组织者认为需要新的资金来源，以保持过去会议所确立的卓越标准。因此，该提案代表了美国国立卫生研究院通过R13奖励机制对即将举行的DBA- ICC会议提供部分支持的请求。公共卫生相关性：Diamond Blackfan贫血国际共识会议是每年举行的唯一一次会议，汇集了医生，科学家和其他对Diamond Blackfan贫血各方面感兴趣的各方。在过去的10年里，这次会议为患者护理制定了一份共识临床护理文件，帮助协调临床试验，刺激合作促进转化研究，并培养了一个环境，使人们在理解Diamond Blackfan贫血的潜在分子基础方面取得了巨大进展。由于Diamond Blackfan贫血是第一种由核糖体合成失败引起的人类疾病，因此，这样的跨学科会议对于汇集不同学科的医生和科学家进行与DBA相关的富有成效的互动并将应用扩展到其他疾病状态是绝对必要的。

DESCRIPTION (provided by applicant): The Diamond Blackfan Anemia International Consensus Conference (DBA-ICC) is the only annual forum which brings together physicians, scientists, and other parties interested in all aspects of the congenital bone marrow syndrome Diamond Blackfan Anemia (DBA). DBA is the first human disease linked to a failure of ribosome synthesis. Understanding the pathophysiology of this rare disease has required an interdisciplinary approach bringing together the highly specialized fields composed of hematologists interested in congenital bone marrow failure syndromes and basic scientists interested in ribosome biology. The annual DBA-ICC meetings have fostered an environment that has led to numerous collaborations between these diverse groups providing a rich breeding ground for translational research. Over the past 10 years these conferences have helped create and disseminate advancements in patient care to the wider community of physicians who may only rarely encounter DBA in clinical practice. Similarly, research into the underlying molecular basis for DBA has led to a much greater understanding of the role of the ribosome in human disease, which has implications for other diseases including cancer. The broadening scope of DBA research has brought new investigators into the DBA field with the result that the DBA-ICC meetings continue to grow in popularity and relevance to physicians and scientists alike. As the annual meeting grows the organizers feel that new sources of funding are needed to maintain the standard of excellence established at past meetings. This proposal therefore represents a request for partial support of the upcoming DBA- ICC meeting from the National Institutes of Health through the R13 award mechanism. PUBLIC HEALTH RELEVANCE: The Diamond Blackfan Anemia International Consensus Conference is the only meeting held each year that brings together physicians, scientists, and other parties interested in all aspects of Diamond Blackfan anemia. Over the past 10 years this meeting has produced a consensus clinical care document for patient care, helped coordinate clinical trials, stimulated collaborations promoting translational research and fostered an environment which has led to tremendous advances in understanding the underlying molecular basis for Diamond Blackfan anemia. As Diamond Blackfan anemia is the first human disease caused by a failure of ribosome synthesis, an interdisciplinary conference such as this is absolutely essential for bringing together physicians and scientists of diverse disciplines for productive interactions relevant to DBA and broadening applications to other disease states.