DCC supplement for Experimental Models Portal and Enhanced Security

Children'S Hosp Of Philadelphia, Philadelphia PA

Investigators

Linked publications & trials

Abstract

PROJECT SUMMARY. This is a proposal to support the design of a pilot data portal for sharing and analysis of data from experimental models of Down syndrome, and to enhance the security ecosystem of the existing researcher portal known as the INCLUDE Data Hub. Down syndrome (DS), which is caused by trisomy of chromosome 21 (chr21, T21), affects ~1 in 700 newborns, making it the most prevalent chromosomal abnormality in the human population and a leading cause of intellectual and developmental disability. T21 affects the development and/or function of nearly every organ system, predisposing persons with DS to many co-occurring conditions across the lifespan. However, little is known about how an extra copy of chr21 causes the multiple developmental and clinical hallmarks of DS. Therefore, there is a clear need to dissect cause-effect relationships between an extra copy of chr21, overexpression of chr21 genes, and the multiple traits of DS through the use of experimental models, such as rodent models and induced pluripotent stem cells (iPSCs) and their progenies. The DS research field has developed many experimental models to investigate the effects of T21 in the laboratory, including myriad animal models and iPSCs with and without T21. However, there is currently no integrated platform for the identification, sharing and analysis of the datasets generated from these experiments. Within this context, we propose here to develop a pilot researcher portal for sharing and analysis of data from experimental models of DS, while also enhancing the security framework of the existing Data Hub. The Specific Aims of this proposal are: 1. Develop a pipeline for the identification, ingestion, curation, harmonization and sharing of data from experimental models of DS. 2. Develop a demonstration online portal for search, identification, and analysis of data from experimental models of DS. 3. Engage a community of experts in the beta testing of the pilot portal. 4. Enhance the security ecosystem of the INCLUDE Data Hub. Enabled by this supplement, we will count with a beta-tested demonstration portal and the underlying expertise for the future creation of an Experimental Models Portal within the INCLUDE Data Hub, while also becoming fully compliant with advanced security standards.