Clinical-Translational Core

Clinical Translation in IDD Research

The CTC is designed to support research that is invested in the elucidation of pathogenic mechanisms (a joint focus of our Model Systems Core) and neural signatures of IDD (a joint focus of our Developmental Neuroimaging Core), toward the derivation of novel treatment targets for higher-impact intervention. In order to fulfill its objectives, the CTC is organized around the complete clinical ascertainment of causal influences (encompassing genetic, epigenetic, and environmental factors) and their respective relationships with developmental and behavioral variation in human subjects. The scientific composition of the CTC complements the leadership of the IDDRC itself in representing deep expertise in clinical and translational elements of the four major themes of our Center.

The CTC comprises core faculty members and technical staff originating from 6 departments at WUSTL. The CTC is designed to: (I) deliver genomic, phenomic, and environmental characterization of human subjects via its two primary units, the Human Genomic Characterization Unit (HGCU) and the Developmental and Behavioral Assessment Unit (DBAU); (II) support bidirectional exchange between exploration of individual variation and specific causal disease mechanisms; and (III) translate new knowledge of personalized medicine approaches into higher-impact interventions. The Core has extensive partnerships with other institutional resources including the CTSA, March of Dimes Prematurity Research Center, Women and Infants Health Specimen Consortium, and NeuroNEXT that complement the work of the IDDRC@WUSTL and from which the CTC harnesses specialized services and facilities for the purpose of advancing science in IDD. Faculty navigators supported by the Administrative Core of the IDDRC@WUSTL -- one with special expertise in basic sciences, one with special expertise in clinical and translational sciences -- are tasked with linking the work of the CTC and its investigators with key complementary facilities at WUSTL and facilitating the development of novel interdisciplinary research projects.

Services of the Clinical Translation Core

Human Genomic Characterization Unit

The HGCU supports investigators seeking consultation and data interpretation with respect to genomic investigation in IDD research, and to oversee the incorporation of genomic data into databases (of investigators and networks) that link genotypic, phenotypic, neuroimaging, environmental, and clinical data in the comprehensive characterization of IDD subjects.

  • Interpretation of genetic information acquired in the course of funded research through a partnership with Genome Technology Assistance Center (GTAC).
  • Recruitment of clinical subjects for scientific discovery in IDD through the Undiagnosed Mendelian Disorders (UMD) clinic at SLCH.
  • Compilation and mining of cumulative genomic data sets for scientific discovery in IDD through the UMD Research Portal, which may be made available to investigators for future study.
  • Consultation on new genomic research including study design, selection of appropriate genomic technology (single gene, MDiGS, exome, genome, etc.), recruitment, IRB application, data acquisition and storage, and return of genetic results.

Developmental and Behavioral Assessment Unit

DBAU provides comprehensive phenotypic characterization of human subjects with or at risk for IDD with major emphases on behavioral and developmental assessment, diagnostic ascertainment, and the characterization of environmental and social factors that impact fetal, infant, and child development.

  • Comprehensive phenotypic characterization of development and behavior including expertise with over 100 current standardized assessment instruments in the domains of early cognitive development, neuropsychological abilities, academic achievement, motor development, social and emotional regulation, and adaptive function.
  • Ascertainment of clinical and sub-clinical developmental psychopathology, including the characterization of sub-clinical autistic syndromes (ADOS, ADIR, SRS), and several comparative reference databases.
  • Elucidation of environmental and intergenerational factors on development through partnerships with the George Warren Brown School of Social Work, which maintains several state-administered indices of child well-being, and the Women and Infants Health Specimen Consortium, which maintains a tissue procurement program.
  • Consultation for new IDD research related to phenotypic characterization which includes assistance with study design, selection of assessment and diagnostic tools, IRB submission, and leveraging data resources through partner facilities.

Fees for Core Usage

Fees for utilization of the Clinical Translation Core are determined after initial consultation on the study design. IDDRC Members may be eligible for negotiated/reduced rates.

Research Aims of the CTC

  1. To provide investigators with the expertise, resources, and assessment services needed to conduct comprehensive clinical, behavioral and genomic characterization of human subjects.
  2. To strategically harness services and expertise of allied WUSTL facilities that critically and cost-effectively complement the IDDRC@WUSTL scientific cores to contribute to a discovery pipeline for higher-impact intervention for individuals affected by or at risk for IDD.
  3. To promote bidirectional interchange between scientific activity in the discovery of pathogenic mechanisms and the testing of novel approaches to IDD prevention and treatment in human subjects and among populations at risk.

CTC Director

Christina Gurnett, MD, PhD
Associate Professor, Neurology

Unit Directors

Developmental and Behavioral Assessment Unit

Desiree White, PhD
Professor, Psychology and Brain Sciences

Suzin Blankenship

Human Genomic Characterization Unit

Marwan Shinawi, MD
Professor, Pediatrics

Dustin Baldridge, MD, PhD
Instructor, Pediatrics