Ferretti, Vincent

– Overall. People with Down syndrome are strongly predisposed to develop a wide range of comorbidities that shorten their lifespan and decrease their quality of life, such as Alzheimer’s disease, congenital heart disease, leukemias, autoimmune disorders, and diverse neurological conditions. The proposed activities under this project seek to create a world-class resource for collaborative discovery, data sharing, data access, and integrative analysis that would enable novel investigations into all DS comorbidities across the lifespan and further integrating across datasets for related diseases occurring in the general population, thus paving the way for a precision medicine approach to DS. Furthermore, this resource and associated platforms will also have broader impacts by empowering physicians, educators, government officials, and advocates with the tools required to elicit evidence- based transformative action in the clinic, the classroom, the government, and society at large.

– Overall. People with Down syndrome are strongly predisposed to develop a wide range of comorbidities that shorten their lifespan and decrease their quality of life, such as Alzheimer’s disease, congenital heart disease, leukemias, autoimmune disorders, and diverse neurological conditions. The proposed activities under this project seek to create a world-class resource for collaborative discovery, data sharing, data access, and integrative analysis that would enable novel investigations into all DS comorbidities across the lifespan and further integrating across datasets for related diseases occurring in the general population, thus paving the way for a precision medicine approach to DS. Furthermore, this resource and associated platforms will also have broader impacts by empowering physicians, educators, government officials, and advocates with the tools required to elicit evidence- based transformative action in the clinic, the classroom, the government, and society at large.

PROJECT NARRATIVE – Overall People with Down syndrome are strongly predisposed to develop a wide range of co-occurring conditions that shorten their lifespan and decrease their quality of life, such as Alzheimer’s disease, congenital heart disease, autoimmune disorders, and diverse neurological conditions. The proposed activities under this project seek to further develop a world-class resource for collaborative discovery, data sharing, data access, and analysis that would enable novel investigations of DS across the lifespan, thus paving the way for a precision medicine approach to DS. Furthermore, this resource and associated platforms will also have broader impacts by empowering physicians, educators, government officials, and advocates with the tools required to elicit evidence- based transformative action in the clinic, the classroom, the government, and society at large.

The Kids First Data Resource will aggregate genetic and clinical data from childhood cancer and structural birth defect patient cohorts, empowering researchers to search, aggregate and analyze the data to uncover entirely new ways of understanding childhood cancer and structural birth defects. The Kids First Data Resource will 1) serve as a centralized data hub to integrate dispersed data sources and provide harmonized data sets 2) provide easy access to and querying of disparate data sets via a web portal for researchers without bioinformatics expertise 3) provide tools for analyzing large and complex data sets encompassing genetic sequence and clinical data. By increasing the utility of genetics data, the Kids First Data Resource will maximize the potential to yield novel discovery and better understanding of genetic etiology underlying childhood cancer and structural birth defects for improved treatment and outcomes.

– Overall. People with Down syndrome are strongly predisposed to develop a wide range of comorbidities that shorten their lifespan and decrease their quality of life, such as Alzheimer’s disease, congenital heart disease, leukemias, autoimmune disorders, and diverse neurological conditions. The proposed activities under this project seek to create a world-class resource for collaborative discovery, data sharing, data access, and integrative analysis that would enable novel investigations into all DS comorbidities across the lifespan and further integrating across datasets for related diseases occurring in the general population, thus paving the way for a precision medicine approach to DS. Furthermore, this resource and associated platforms will also have broader impacts by empowering physicians, educators, government officials, and advocates with the tools required to elicit evidence- based transformative action in the clinic, the classroom, the government, and society at large.