The Gene Curation Coalition: A global effort to harmonize gene-disease evidence resources

Documenting the evidence supporting the relationships between genes and disease is a critical element to enable clinical implementation of genes for rare disease diagnosis. The Gene Curation Coalition (GenCC), a large international consortium led by Heidi Rehm and Marina DiStefano, released their first paper on the GenCC’s work to build a public database ( of monogenic gene-disease relationships that have been curated using harmonized standards. The GenCC database functions like a “ClinVar for Genes” accepting and sharing submissions from the community (over 16,000 to date) and then facilitating discrepancy resolution through the collaborating GenCC members which includes ClinGen, OMIM, Orphanet, Genomics England, Australia Genomics, HUGO, and many private commercial testing labs.

To hear more about the GenCC, listen to the Genetics in Medicine GenePod podcast featuring an interview of Rehm and Marina DiStefano.

December 19, 2022

CGM Primary Investigator

Heidi Rehm