Espinosa, Joaquin M PHD

INCLUDE Grants​

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.

Admin supplement - Autism in young children with Down Syndrome

Espinosa, Joaquin MFidler, Deborah J

This Supplement project aims to identify molecular markers of risk for autism spectrum disorder (ASD) in young children with Down syndrome (DS) to advance early screening procedures. We will leverage the ASD-related phenotyping data collected in project #R01HD110542 and collect blood samples concurrently with ASD assessment visits. The addition of biospecimen collection to parent project data collection could facilitate the discovery of molecular indicators of ASD in DS and advance early detection of DS+ASD. It could also identify potential mechanisms that contribute to the onset of DS+ASD and contribute to a new scientific foundation for early intervention and future treatments in this population.

Down Syndrome Publications​