# Data Management and Portal for the INCLUDE (DAPI) Project

> **NIH NIH U2C** · CHILDREN'S HOSP OF PHILADELPHIA · 2020 · $4,002,500

## Abstract

PROJECT SUMMARY – Overall.
Individuals with Down syndrome (DS), the genetic condition caused by trisomy 21 (T21), are predisposed to a
spectrum of heterogeneous diseases while simultaneously protected from developing other pathogenic
conditions relative to the typical population. In ways still poorly defined, T21 protects individuals from most solid
malignancies while strongly predisposing them to Alzheimer’s disease, congenital heart disease, leukemias,
autoimmune disorders, and diverse neurological conditions. However, little is known about the mechanisms
underlying this differential clinical profile or the relationship between these conditions in the context of DS versus
when occurring in the general population. Moreover, individuals with DS display a large degree of phenotypic
variation suggesting the existence of modulating factors that affect how T21 manifests at the individual level,
including genetic variation, epigenetic modifiers, varying endotypes modulating the transcriptome, proteome and
metabolome, lifestyle and environmental factors, or even perhaps the microbiome. Therefore, elucidating the
mechanisms driving and modulating DS comorbidities will serve not only the six million people worldwide with
DS alive today, but also millions of individuals affected by these comorbidities in the typical population. The
importance of this fact has been acknowledged by NIH through the launching of the INCLUDE (INvestigation of
Co-occurring conditions across the Lifespan to Understand Down syndromE) Project.
Within this framework, the INCLUDE Project has recognized the strategic importance of a large cohort study of
individuals with DS to accelerate research in this area, with the goal of enabling a precision medicine approach
to DS via novel diagnostics and therapeutic tools. Therefore, the mission of this DCC team is to create a world-
class resource and associated platforms for empowered data sharing, data access, and integrative analysis that
will enable novel investigations into all DS comorbidities across the lifespan. To achieve this goal, the proposed
DCC will create a real-time, integrated data ecosystem that will catalyze innovation, collaboration, and
transformative discoveries by engaging and empowering a diverse community of stakeholders to drive
collaborative, accelerated discovery on behalf of transformative action and impact from bench to bedside and
beyond. Altogether, the efforts underpinning the proposed efforts will serve first and foremost people with DS
by accelerating research into DS comorbidities, but will also elevate our understanding of human biology across
diverse scientific disciplines.

## Key facts

- **NIH application ID:** 10108751
- **Project number:** 1U2CHL156291-01
- **Recipient organization:** CHILDREN'S HOSP OF PHILADELPHIA
- **Principal Investigator:** Robert J Carroll
- **Activity code:** U2C (R01, R21, SBIR, etc.)
- **Funding institute:** NIH
- **Fiscal year:** 2020
- **Award amount:** $4,002,500
- **Award type:** 1
- **Project period:** 2020-09-26 → 2025-08-31

## Primary source

NIH RePORTER: https://reporter.nih.gov/project-details/10108751

## Citation

> US National Institutes of Health, RePORTER application 10108751, Data Management and Portal for the INCLUDE (DAPI) Project (1U2CHL156291-01). Retrieved via AI Analytics 2026-05-22 from https://api.ai-analytics.org/grant/nih/10108751. Licensed CC0.

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