2023 ACMG Annual Clinical Genetics Meeting Digital Edition: Poster Gallery-The NIH INCLUDE Project: An Opportunity to Advance Quality-of-Life Goals for a Diverse Population with Down Syndrome Through Research

The NIH INCLUDE Project: An Opportunity to Advance Quality-of-Life Goals for a Diverse Population with Down Syndrome Through Research

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Pdf Summary

The National Institutes of Health (NIH) launched the INCLUDE Project in 2018 to study conditions that affect individuals with Down syndrome (DS) and the general population. The project aims to increase the number of investigators engaged in DS research and improve the diversity of research participants, trainees, and investigators. It also focuses on conditions such as Alzheimer's disease, autism, celiac disease, congenital heart disease, and diabetes. The DS-Connect registry and INCLUDE Data Coordinating Center (DCC) are facilitating research participation and data sharing. The NIH has invested $258 million in INCLUDE over the past five years, with a funding of $75 million in FY 2022. The projects funded include studies on metabolic disturbance, obesity, diabetes, behavior inventory, hearing loss, neurodegeneration biomarkers, and lifestyle factors. The DS-Connect registry is a confidential online survey tool to collect health information and connect individuals with DS to research opportunities. Several funding opportunities are available for DS research, with an emphasis on diverse applicants and recruitment of diverse cohorts. The INCLUDE DCC is developing a cloud-based platform to access and share DS resources. In the past nine years, over 95 studies have requested recruitment support, with over 90% approved by the research review committee. The goal of the INCLUDE Project is to improve treatments and quality-of-life for individuals with DS.

Asset Subtitle

Presenting Author - Melissa A. Parisi, MD, PhD, FACMG, FAAP; Co-Author - Sujata Bardhan, PhD; Co-Author - Rachel Dows, BS; Co-Author - Cara A. Finley, MPH; Co-Author - Linda Garcia, BA; Co-Author - Huiqing Li, PhD; Co-Author - Laura Long, PhD; Co-Author - Gail Pearson, MD, ScD; Co-Author - Laurie Ryan, PhD; Co-Author - Charlene Schramm, PhD; Co-Author - Erika Tarver, MS;

Meta Tag

Brain/Nervous System

Chromosomal Abnormalities

Congenital Anomaly

Cytogenetics

Delineation of Diseases

Genome sequencing

Intellectual disability

Neuroscience

Phenotype

Therapy

Co-Author Sujata Bardhan, PhD

Co-Author Rachel Dows, BS

Co-Author Cara A. Finley, MPH

Co-Author Linda Garcia, BA

Co-Author Huiqing Li, PhD

Co-Author Laura Long, PhD

Co-Author Gail Pearson, MD, ScD

Co-Author Laurie Ryan, PhD

Co-Author Charlene Schramm, PhD

Co-Author Erika Tarver, MS

Presenting Author Melissa A. Parisi, MD, PhD, FACMG, FAAP

Keywords

National Institutes of Health

NIH

INCLUDE Project

Down syndrome

research

diversity

Alzheimer's disease

autism

celiac disease

congenital heart disease