Harnessing Clinical Genomic Characterization to Accelerate Translational Advances for Patients with IDD

2023

This project will prepare the CTSAs—as a network—to function as a self-sustaining engine of open science and new discovery for higher-impact intervention for patients with intellectual and developmental disabilities (IDD). We will institute and disseminate new standardized protocols for ensuring that all patients with IDD, or with clinical abnormalities in genes suspected of influencing IDD, are comprehensively characterized with respect to neurobehavioral variation. This information, along with new capacity engendered by a dedicated CTSA-IDD Registry to integrate genotype, phenotype, and electronic health record information on clinical course and intervention outcome stands to revolutionize the clinical and scientific information base on IDD, and will create new opportunity to identify sub groups of patients with distinct profiles of symptomatology, biology, clinical course, and/or treatment response that will ultimately specify personalized approaches to intervention, and eligibility for innovative clinical trials.

Training Trainees, Performing Research or Evaluation

Health-Related Activities

Family Members/Caregivers, Adults with Disabilities, Children/Adolescents with Disabilities/SHCN

Racial or Ethnic Minorities, Disadvantaged Circumstances

Single-County, Mulit-County, State, Regional

N/A