A Pilot for Enhancing Support for a Federated Framework of Biospecimens for Down Syndrome Research via the INCLUDE Data Hub

Espinosa, Joaquin MResnick, Adam Cain


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.