Clinical Genome Resource (ClinGen)

ClinGen is a National Institutes of Health (NIH)-funded resource dedicated to building an authoritative central resource that defines the clinical relevance of genes and variants for use in precision medicine and research. ACMG coordinates the three expert panels within the Inborn Errors of Metabolism clinical domain, as well as the Somatic work group.  ACMG staff are aiding in the development of training modules on variant curation, as well as asking locus specific databases (with variant data for different genes related to the expert panels in progress) to submit their data to the ClinGen curation efforts.  The ACMG meetings coordinator plans all the ClinGen face-to-face meetings (e.g., steering committee, expert panel, and work group meetings).

ACMG is a sub-contractor under #1U01HG007437-01.

Clinical Genome Logo

National Coordinating Center for the Regional Genetics Networks (NCC)

NCC Logo
The mission of the seven HRSA Regional Genetics Networks (RGNs), the National Coordinating Center (NCC), and the National Genetics Education and Family Support Center (Family Center) is to improve the availability, accessibility, and quality of genetic services and resources for medically underserved individuals having, or at risk for, genetic conditions and their families across the lifespan.

This project is supported by the Health Resources and Services Administration (HRSA) of the U.S. Department of Health and Human Services (HHS) under Cooperative Agreement #UH9MC30770-01 from 6/2017-5/2020 for $800,000 per award year.

Newborn Screening Translational Research Network (NBSTRN)

The mission of the Newborn Screening Translational Research Network (NBSTRN) is to improve the health outcomes of newborns with genetic or congenital disorders by means of an infrastructure that allows investigators access to robust resources for newborn screening research.

The NBSTRN is funded by the Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health (contract #HHSN275201300011C).