DBMI and NCATS to Collaborate on Global Rare Diseases Data Repository

female child with glasses smiling
Image courtesy of NCATS

In August 2015, the National Center for Advancing Translational Sciences (NCATS) awarded DBMI a supplemental grant of $2.4M to further develop the Global Rare Diseases Patient Registry Data Repository/GRDR® program. Led by Isaac Kohane, M.D., Ph.D., and Paul Avillach, M.D., Ph.D., the efforts will build in part on DBMI's PIC-SURE platform (Patient-Centered Information Commons: Standardized Unification of Research Elements), which is a project based on the i2b2 and tranSMART platforms and funded by NIH's Big Data to Knowledge (BD2K) initiative.

The GRDR program is designed to advance research on rare diseases and, through application of scientific insights gained, to further research on common diseases as well. The goal is to develop a Web-based resource that integrates, secures and stores many different types of de-identified patient information from a wide range of sources—registries, electronic health records, research datasets, biospecimen repositories and more—all in one place.

The ability to retrieve data from such varied sources will enable researchers to conduct comparative and cross-disease analyses. Combining data from many disorders and facilitating its use in state-of-the-art collaborative research ultimately may lead to new understanding of these illnesses as well as the development of new drugs and therapeutics for the millions of patients with rare diseases.

This NCATS-HMS collaboration will enable work to integrate different patient registries into the GRDR program and provide secure, encrypted access to these data to authorized users. Using this approach, data providers can more easily share their data with the wider research community and ultimately help get more treatments to more patients more quickly.