WASHINGTON UNIVERSITY INTELLECTUAL AND DEVELOPMENTAL DISABILITIES RESEARCH CENTER

Washington University, Saint Louis MO

Investigators

Linked publications, trials & patents

Abstract

ABSTRACT This IDDRC administrative supplemental application builds on a successful collaboration of the Intellectual and Developmental Disabilities Research Centers (IDDRCs), in which investigators at 12 centers implemented the NIH-funded Brain Gene Registry (BGR) to understand the impact of rare variants in intellectual and developmental disabilities (IDD) genes. As a multisite network-wide collaborative project, the BGR promotes translational research spanning the nearly 3,000 purported IDD genes by uniquely linking genotypic and phenotypic data, remotely capturing rapid neurobehavioral assessment (RNAP) data, and collecting correlative electronic health record (EHR) data. To accelerate the translational advances arising from this unique cross- IDDRC resource, we propose to use this IDDRC administrative supplement to sustain the growth of the BGR both in terms of participant accrual and data usage. In Aim 1, we will collect participant data through collaborations with GenomeConnect, individual sites for EHR data, and centralized administration of the remote behavioral assessment protocol (RNAP) using our CIELO platform BGR database. To encourage recruitment and reduce participant burden, we will assess strengths and redundancies in multimodal data collection. We will validate the remote neurobehavioral assessment protocol (RNAP) with traditional in-person assessment and explore the use of Artificial Intelligence (AI)-based methods to extract meaningful information from the EHR to reduce the high burden on participants and improve data completeness. In Aim 2 we will resolve IDD gene and variant pathogenicity through partnerships with ClinGen by leveraging the paired genotypic and phenotypic BGR data to curate and reclassify variants under the ClinGen Gene and Variant Curation Expert Panel framework. In Aim 3, we will develop strategies to facilitate use of BGR by investigators and patient advocacy groups (PAGs) by simplifying data access and disseminating information to participants and researchers. These initiatives build capacity and access to a shared IDD resource by investigators within and beyond the IDDRC network, as well as patient advocacy groups.