STSS - RARE DISEASES INFORMATICS PROGRAM (RDIP) SUPPORT

STSS - 罕见疾病信息学计划 (RDIP) 支持

• 批准号: 10505184
• 负责人: REID SIMON
• 金额: $ 101.97万
• 依托单位: AXLE INFORMATICS, LLC
• 依托单位国家: 美国
• 财政年份: 2021
• 资助国家: 美国
• 起止时间: 2021-09-28 至 2022-09-27
• 项目状态: 已结题
• 来源: https://reporter.nih.gov/project-details/10505184
• 关键词: Affect; Clinical; Communities; Data; Data Collection; Data Sources; Database Management Systems; Databases; Diagnostic; Disease; Goals; Healthcare; Healthcare Systems; Informatics; Laws; Literature; Machine Learning; Medical; Methods; Orphan Drugs; Patient Care; Patients; Pilot Projects; Play; Public Health; Rare Diseases; Research; Research Priority; Research Support; Role; Source; Time; United States National Institutes of Health; computerized tools; data dissemination; diverse data; experience; health care service utilization; informatics infrastructure; infrastructure development; programs; tool; web portal

Currently, there are about 7,000-10,000 known rare diseases that affect people in the US, yet only a few hundred (less than 5%) have a treatment and even fewer a cure. A rare disease is defined in US law (Orphan Drug Act (ODA) of 1983, Rare Diseases Act (RDA) of 2002) as a disease or condition that affects fewer than 200,000 people in the US. Most rare diseases affect far fewer patients than this, with most rare diseases affecting only a few hundreds to thousands of patients. Collectively, however, rare diseases are not rare at all, and in total are estimated to affect as many as 25-30 million patients in the US, making rare diseases a large public health consideration. Informatics plays an important role in rare disease research support and patient care. Given the large number of different rare diseases, each of which affects only a small number of patients, assessing the broad rare diseases research and healthcare landscape is challenging. In order to better understand the ongoing research, treatment and healthcare utilization, and diagnostic journey of patients with rare diseases, NCATS ORDR is seeking to create a rare disease-specific analytics platform that could enable more efficient and coordinated approaches to data collection, integration and analysis from diverse sources, such as the medical literature, NIH databases and healthcare systems data. This could include establishing an informatics platform infrastructure, development of machine-learning tools and methods to identify, collect, integrate and analyze such data, and dissemination of the findings to the rare diseases research and clinical communities to help identify and inform rare diseases research priorities. Initially, building an informatics infrastructure framework and performing smaller pilot projects would be prioritized, with the larger goal of building on this experience to gain greater understanding of rare diseases research and healthcare over a broader scope over time.

目前，在美国，大约有7000 - 10000种已知的罕见疾病影响着人们，但只有几百种（不到5%）有治疗方法，治愈的更少。美国法律（1983年的《孤儿药法案》（ODA）、2002年的《罕见病法案》（RDA））将罕见病定义为在美国影响不到20万人的疾病或病症。大多数罕见病影响的患者远少于此，大多数罕见病仅影响数百至数千名患者。然而，总的来说，罕见疾病一点也不罕见，估计总共影响美国多达2500万至3000万患者，使罕见疾病成为一个重要的公共卫生问题。 信息学在罕见病研究支持和患者护理中发挥着重要作用。鉴于大量不同的罕见病，每种疾病只影响少数患者，评估广泛的罕见病研究和医疗保健前景是具有挑战性的。为了更好地了解正在进行的研究，治疗和医疗保健利用，以及罕见病患者的诊断旅程，NCATS ORR正在寻求创建一个罕见病特定的分析平台，可以实现更有效和协调的方法来收集，整合和分析来自不同来源的数据，如医学文献，NIH数据库和医疗保健系统数据。这可能包括建立信息学平台基础设施，开发机器学习工具和方法来识别、收集、整合和分析此类数据，以及将研究结果传播给罕见病研究和临床社区，以帮助识别和告知罕见病研究优先事项。最初，将优先考虑建立信息学基础设施框架和执行较小的试点项目，更大的目标是在此基础上，随着时间的推移，在更广泛的范围内更好地了解罕见疾病研究和医疗保健。