Data Management and Portal for the INCLUDE (DAPI) Project

INCLUDE (DAPI) 项目的数据管理和门户

• 批准号: 10697338
• 负责人: Robert J Carroll
• 金额: $ 386.95万
• 依托单位: CHILDREN'S HOSP OF PHILADELPHIA
• 依托单位国家: 美国
• 财政年份: 2020
• 资助国家: 美国
• 起止时间: 2020-09-26 至 2025-08-31
• 项目状态: 未结题
• 来源: https://reporter.nih.gov/project-details/10697338
• 关键词: Acceleration; Advocacy; Advocate; Affect; Alzheimer' s Disease; Alzheimer' s disease related dementia; Amyloid Beta A4 Precursor Protein; Area; Autoimmune Diseases; Automobile Driving; Biomedical Research; Child; Chromosome 21; Chromosomes; Clinic; Clinical; Cohort Studies; Collaborations; Communities; Complex; Data; Data Coordinating Center; Data Set; Development; Discipline; Disease; Down Syndrome; Ecosystem; Education; Ensure; Environmental Risk Factor; Epigenetic Process; Epilepsy; Family; General Population; Genetic Diseases; Genetic Variation; Goals; Government; Government Officials; Human; Human Biology; Individual; Intuition; Investigation; Life Cycle Stages; Life Expectancy; Link; Longevity; Malignant Neoplasms; Methods; Mission; Modality; Multiomic Data; Neurologic; Participant; Pathogenicity; Persons; Phenotype; Physicians; Population; Proteome; Quality of life; Research; Resources; Risk; Schools; Scientist; Societies; Solid; Surveys; Technology; Time; Training; United States National Institutes of Health; Variant; autism spectrum disorder; bench to bedside; biobank; comorbidity; congenital heart disorder; data access; data ecosystem; data integration; data management; data portal; data resource; data sharing; data sharing networks; design; diverse data; empowerment; epidemiology study; evidence base; innovation; interoperability; leukemia; lifestyle factors; metabolome; microbiome; novel; novel diagnostics; novel therapeutics; outreach; precision medicine; prenatal; synergism; timeline; tool; transcriptome; virtual

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.

项目总结-总体。