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

University Of North Carolina At Chapel Hill, Chapel Hill NC

Investigators

Abstract

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.