Prader-Willi Syndrome Research Strategy Workshop

描述(申请人提供)：Prader-Willi综合征(PWS)是一种复杂的神经发育障碍，由父系来源的15号染色体PWS区域的活跃转录DNA丢失引起。对PWS患者的研究影响了我们对遗传印记、非编码RNA在人类疾病中的作用、肥胖机制、神经精神疾病的遗传学和正常神经发育的理解。然而，尽管PWS临界区是在25年前定义的，但PWS表型的潜在基础仍然知之甚少。此外，虽然更好的诊断测试和早期干预导致了结果的改善，但很明显，其他挑战，如精神疾病、睡眠障碍和内分泌功能障碍是重大但未被研究的问题。组织者正在为两个两年期讲习班寻求部分资金，以制定一项协调的研究战略，其中将包括确定高度优先的研究目标，并为实现这些目标制定可行的步骤。第一次会议将于2009年11月初在国立卫生研究院校园举行，将有大约50名科学家参加，他们拥有与PWS相关的广泛学科的专业知识。这次研讨会的独特之处在于，它将把来自不同背景的基础和临床科学家聚集在一起，解决PWS中尚未解决的问题。研讨会的目标包括通过描述高度优先、悬而未决的基础科学和临床问题来确定PWS研究中的挑战和机会；确定解决这些问题所需的资源和研究工具；确定跨学科研究的新领域和促进战略合作的计划；以及有效地传播研讨会提出的建议。今后的会议将评估在最初研讨会中确定的目标方面的进展情况，并修订和推进PWS研究战略。 公共卫生相关性：Prader-Willi综合征研究战略研讨会将汇集对Prader-Willi综合征(PWS)具有重要意义的不同领域的领先科学家，目标是制定一项研究战略，以促进PWS科学的发展。参与者将确定研究问题的优先顺序，并确定机会和需求。将就资源开发、合作机会和培训机制提出建议，以促进研究目标的实现。对这种罕见疾病的研究进展将揭示常见的公共卫生问题，包括进食障碍、肥胖、睡眠障碍和精神健康。

DESCRIPTION (provided by applicant): Prader-Willi syndrome (PWS) is a complex neurodevelopmental disorder resulting from loss of actively transcribed DNA from the PWS region of the paternally derived chromosome 15. Insights from the study of individuals with PWS have impacted our understanding of genetic imprinting, the role of noncoding RNAs in human disease, mechanisms of obesity, genetics of neuropsychiatric illness, and normal neurodevelopment. However, the underlying basis of the PWS phenotype remains poorly understood, despite the fact that the PWS critical region was defined more than twenty-five years ago. In addition, while better diagnostic tests and early intervention have led to improved outcomes, it has become clear that additional challenges such as mental illness, sleep disturbances, and endocrine dysfunction are significant but understudied problems. The organizers are seeking partial funding for two biennial workshops to develop a coordinated research strategy for PWS, which will include the identification of high priority research goals and the development of actionable steps towards achieving those goals. The first meeting will be held on the NIH campus in early November 2009, and will include approximately 50 scientists with expertise in the broad range of disciplines relevant to PWS. This workshop is unique in that it will bring together basic and clinical scientists from diverse backgrounds to address unresolved problems in PWS. Workshop goals include defining the challenges and opportunities in PWS research through the delineation of high priority, unresolved basic science and clinical questions; determining the resources and research tools needed to address these questions; identifying of new areas of cross-disciplinary research with a plan to promote strategic collaborations; and effectively disseminating the recommendations that arise from the workshop. Future meetings will assess progress on the goals established in the initial workshop, and revise and advance the PWS Research Strategy. PUBLIC HEALTH RELEVANCE: The Prader-Willi Syndrome Research Strategy Workshop will bring together leading scientists from the diverse fields of significance to Prader-Willi syndrome (PWS), with the goal of developing a research strategy to advance the science of PWS. Participants will prioritize research questions and identify opportunities and needs. Recommendations will be made with respect to resource development, collaborative opportunities, and training mechanisms to facilitate attainment of research goals. Advancement of research for this rare disorder will shed light on common public health concerns including eating disorders, obesity, sleep disorders, and mental health.