STSS - RARE DISEASES INFORMATICS PROGRAM (RDIP) SUPPORT

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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.