DiGiovanna, Jack PhD

– 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 mission of the INCLUDE Data Coordinating Center is to accelerate research that benefits individuals with Down syndrome (DS) by facilitating access and analysis of data from cohort studies of people with DS. This award will fund the development of an immersive summer course in data sciences known as the Data Science for Developing Scholars in Down Syndrome Research (DS3), which will provide training in the basics of generation, identification and collection of high content multidimensional datasets; their management, analysis and visualization; as well as development of key professional skills required for the career advancement of trainees.

The INCLUDE Data Hub has reached a significant milestone (MVP launch) featuring both open-access and controlled data. Investing in INCLUDE infrastructure that can serve controlled access data directly will empower more researchers with richer data; increasing the probability of advancing DS research. We will design, build, and integrate a Clearinghouse with the INCLUDE DRS Server and the NIH Researcher Auth Service (RAS) to create a secure and compliant system to serve controlled data within the INCLUDE Data Hub.

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. The activities supported by this award will enable the future creation of an Experimental Models Portal within the INCLUDE Data Hub, while also supporting full compliance with advanced security standards.

– 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.