The INCLUDE Data Coordinating Center

Children'S Hosp Of Philadelphia, Philadelphia PA

Investigators

Linked publications, trials & patents

Abstract

PROJECT SUMMARY – Overall In 2018, the NIH launched the INCLUDE (INvestigation of Co-occurring conditions across the Lifespan to Understand Down syndromE) Project, a transformative initiative focused on the study of Down syndrome (DS), the condition caused by trisomy 21, which is the most common chromosomal abnormality and a leading cause of intellectual and developmental disability. Importantly, individuals with DS display a different clinical risk profile, whereby they are protected from developing certain medical conditions, but are also highly predisposed to others, such as Alzheimer’s disease, autoimmune conditions, congenital heart defects, complications from lung infections, and autism. Therefore, the INCLUDE Project funds a large portfolio of investigations that could advance not only our understanding of DS, but also of many conditions that affect the general population. Within this framework, the mission of the INCLUDE Data Coordinating Center (DCC), is to accelerate discoveries that continuously improve and enrich the lives of people with DS through accessible data resources that enable interdisciplinary collaboration, connected communities, and the expansion of a global DS knowledge ecosystem. To fulfil this mission, the DCC is organized into three cores: the Administrative and Outreach Core (AOC), the Data Management Core (DMC), and the Data Hub Core (DHC), which will develop the following activities: 1. Provide administration and outreach functions to advance the mission of the INCLUDE Project. The AOC will provide management and administration to ensure mission-aligned DCC functions and engage a diverse community of stakeholders through outreach, training, and education. 2. Develop a platform for efficient data ingest, curation, harmonization, and sharing. The DMC will collaborate with the DS research community to jointly embrace data sharing best practices; modernize data infrastructure to improve speed and scalability; extend support to new data modalities and improve usability of data products; and build connections with key INCLUDE initiatives to maximize research and innovation. 3. Accelerate discoveries through a portfolio of online resources for data sharing and analysis. The DHC will expand the INCLUDE Data Hub’s capabilities to support FAIR-compliant, interoperable, and user-driven data sharing; advance cohort-building, analytics, and visualization tools for integrative, multimodal data exploration and hypothesis generation; support integration and collaboration across the INCLUDE program’s ecosystem of cohort-development initiatives; and engage and expand the INCLUDE research community through cross- platform interoperability, training, outreach, and partnerships. Altogether, these activities advance the mission of the INCLUDE Project by ensuring that all data generated by studies of DS are returned to the community in ways that are accessible to a broad range of secondary users, thus enabling for discoveries that elongate the lifespan and improve health outcomes for people with DS.