Data Hub Core

Children'S Hosp Of Philadelphia, Philadelphia PA

Investigators

Linked publications, trials & patents

Abstract

PROJECT SUMMARY - Data Hub Core (DHC) The Down syndrome (DS) community faces unique challenges and opportunities for advancing research into the mechanisms driving heightened risk for certain conditions and resilience to others. The NIH INCLUDE (INvestigation of Co-occurring conditions across the Lifespan to Understand Down syndromE) Project catalyzes discovery by supporting basic science, cohort development, and inclusive clinical trials focused on DS and co- occurring conditions. A critical foundation for this vision is a scalable, interoperable data infrastructure that can integrate diverse, multimodal datasets and deliver them to a broad user community—researchers, clinicians, data scientists, advocates, and individuals with DS and their families. The Data Hub Core (DHC) of the INCLUDE Data Coordinating Center (DCC) serves as the public-facing engine, transforming a wealth of genetic, phenotypic, imaging, clinical, and -omics data into a globally accessible, user- friendly resource. Building on initial successes—FAIR-compliant data integration of over 9,000 participants, deployment of intuitive cohort-building tools, secure cloud-based analytics (CAVATICA), and early interoperability pilots—the Data Hub will now expand capabilities to meet the growing complexity and scale of the INCLUDE ecosystem. This ecosystem now encompasses the Down Syndrome Cohort Development Program (DS-CDP), the DS-Biorepository, clinical cohort coordinating centers, experimental model portals (EMODS), and federated links to external NIH resources such as the Kids First Data Resource, all to enhance DS co-occurring conditions research. By weaving these nodes together, the Data Hub will support the advancement of resources on behalf of improved, personalized care that can address DS health challenges across the lifespan. The Data Hub will enhance advanced visualization, ontology-based search, AI-driven queries, and flexible cohort assembly to empower both novice and expert users. By integrating minimal common data elements (CDEs) to facilitate longitudinal analyses and harmonization, aligning workflows with evolving NIH security standards for controlled-access data, and incorporating multimodal data including medical imaging data through the Flywheel platform, the Data Hub will continuously improve and expand its capabilities. Its innovative, modular design will enable rapid adaptation to emerging data types—such as EHR and mobile health data—while ensuring interoperability with other platforms via GA4GH and FHIR standards. In achieving these objectives, the Data Hub will serve as a nexus for discovery, catalyzing a research ecosystem that advances understanding of co-occurring conditions in DS, informs more inclusive clinical trials, and accelerates the development of targeted interventions. This integrated, future-proof platform will help realize the INCLUDE Project’s mission of improving health outcomes and quality of life for all individuals with DS.