Di Giovanna, Jack
Seven Bridges Genomics, Inc
The INCLUDE Data Hub has reached a significant milestone (MVP launch) featuring both open-access and controlled data. Investing in INCLUDE infrastructure that can serve controlled access data directly will empower more researchers with richer data; increasing the probability of advancing DS research. We will design, build, and integrate a Clearinghouse with the INCLUDE DRS Server and the NIH Researcher Auth Service (RAS) to create a secure and compliant system to serve controlled data within the INCLUDE Data Hub.
People with Down syndrome are strongly predisposed to develop a wide range of comorbidities that shorten their lifespan and decrease their quality of life, such as Alzheimer’s disease, congenital heart disease, leukemias, autoimmune disorders, and diverse neurological conditions. The proposed activities under this project seek to create a world-class resource for collaborative discovery, data sharing, data access, and integrative analysis that would enable novel investigations into all DS comorbidities across the lifespan and further integrating across datasets for related diseases occurring in the general population, thus paving the way for a precision medicine approach to DS. Furthermore, this resource and associated platforms will also have broader impacts by empowering physicians, educators, government officials, and advocates with the tools required to elicit evidence- based transformative action in the clinic, the classroom, the government, and society at large.