BD Spokes: PLANNING: SOUTH: Collaborative: Rare Disease Observatory

在过去的15年里，由于对人类遗传学和相关医学综合征的了解迅速扩大，现在已经发现了7000多种罕见疾病。在美国，一种疾病如果影响到特定罕见疾病组中少于20万人，就被认为是罕见的。据估计，十分之一的美国人--3000多万人--患有罕见疾病。约50%受罕见疾病影响的人是儿童；此外，80%的罕见疾病源于基因，因此存在于人的一生中。如果关于罕见疾病的现有信息作为一个整体联系在一起并可供访问，那么就有可能利用大型数据集分析和生物医学分析的最新进展来处理这些信息。因此，对罕见疾病的研究和临床进展将有望改善患者及其家人的状况和生活质量。这些数据还将使研究人员、临床医生、医疗保健系统、行业和机构受益，它们到目前为止还没有成功地协调他们的活动来应对这些数据挑战。最广泛的影响将是证明这种模式的协调和整合是可能的，因此可能有助于解决影响数千万美国人的大型医疗问题。拟议规划项目的具体目标是：(1)探讨将以前孤立的、因此只能在单一研究小组或机构内使用的关于罕见疾病的高价值数据集纳入罕见疾病观察站的可行性；(2)调查如何将这些数据集以及适当的隐私和访问控制机制作为一个整体提供给更广泛的群体和广大公众。在这项试点探索中，该团队将对可用的罕见疾病数据集进行编目，调查北卡罗来纳州的相关结构或政策，并探索RDO的数据启用和信息集成解决方案。根据吸取的经验教训，该团队以后可以将互动扩展到其他南BD枢纽州，并可能扩展到全国各地的其他枢纽。如果拟议的规划项目确认了RDO的可行性，它将能够向NSF提交一份完整的BD SPEED提案，重点是创建一个大型综合分析准备好的罕见疾病数据集储存库，据我们所知，这是全国第一个这样的储存库。这将使整合的罕见疾病数据与大数据分析和生物医学分析的最新进展相结合。因此，罕见疾病的研究和临床进展有望导致新的研究和科学发现与合作，并最终改善患者及其家人的状况和生活质量。

Due to the rapid expansion in understanding human genetics and related medical syndromes over the past 15 years, over 7000 rare diseases have now been identified. In the United States, a condition is considered rare if it affects fewer than 200,000 persons combined in a particular rare-disease group. It is estimated that one in ten Americans - more than 30 million people - are living with rare diseases. Approximately 50% of the people affected by rare diseases are children; further, 80% of rare diseases are genetic in origin, and thus are present throughout a person's life. If the available information about rare diseases were connected and accessible as a whole, it would be possible to work with it using the latest advances in large data-set analytics and biomedical analysis. The research and clinical progress on rare diseases thus enabled will be expected to lead to improvements in the condition and quality of life of patients and their families. These data will also benefit researchers, clinicians, healthcare systems, industry, and agencies, which have so far not been successful at coordinating their activities to address these data challenges. The broadest impact would be to demonstrate that this model coordination and integration is possible and thus may be useful in addressing the large healthcare problems that affects tens of millions of Americans. The specific goals of the proposed planning project are to (i) explore the feasibility of integrating into a Rare Disease Observatory (RDO) high-value data sets on rare diseases that were previously siloed and, therefore, usable only within a single research group or institution, and to (ii) investigate how to make these data sets, along with appropriate privacy and access-control mechanisms, available as a whole to a broader set of groups and to the public at large. In this pilot exploration, the team will catalog the available rare-disease data sets, investigate the relevant structures or policies within the state of North Carolina, and explore data-enablement and information-integration solutions for RDO. Based on the lessons learned, the team could later extend interactions to other South BD Hub states, and possibly to other Hubs across the nation. If the proposed planning project confirms feasibility of RDO, it will enable submission to NSF of a full BD Spoke proposal focusing on creating a large-scale integrated analysis-ready repository of data sets on rare diseases, the first such repository in the nation to the best of our knowledge. This will allow to combine the integrated rare-disease data with the latest advances in large-data analytics and biomedical analysis. The research and clinical progress on rare diseases thus enabled would be expected to lead to new research and science discoveries and collaborations, and ultimately to improvements in the condition and quality of life of patients and their families.