Espinosa, Joaquin M PHD
University of Colorado Denver
The respective biorepositories of the Children’s Hospital of Philadelphia and the Crnic Institute Human Trisome Project Biobank will partner with the INCLUDE Data Hub to support the proposed development of a centralized biorepository data resource to coordinate a single biospecimen data repository or a network of repositories curating and distributing tissue specimens, cell lines, and associated derived analytes such as DNA, RNA, metabolites or proteins relevant to Down syndrome research. Coordinating the linkages between samples, clinical data, and derived biosample characterization data and/files such that a federated framework of queryable samples are available as an integrated resource to the investigator community remains a fundamental challenge. This project will address this unmet need in the field.
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.