Marina DiStefano
Associate Lab Director,
The Broad Institute
I am a clinical molecular geneticist and associate lab director at the Broad Institute interested in disease research, particularly the elucidation of disease susceptibility genes. I joined Heidi Rehm's research program at Harvard, completing my molecular genetics fellowship and working as a postdoctoral fellow on the NIH-funded Clinical Genome Resource (ClinGen) program which is building authoritative resources to define the clinical relevance of genes and variants for use in precision medicine and research. The initial focus of my postdoctoral work was to support gene and variant curation throughout ClinGen. I collaborated to finalize the ClinGen framework, which provides astandardized process for gene curation, in which evidence for or against a gene/disease relationship is systematically scored to establish an overall evidence level for that relationship. Categorizing gene/disease relationships in such a way informs multiple aspects of medical genomics, including variant interpretation, clinical test development and identification of the causes of genetic disorders. With my experience setting gene curation standards, I have helped to lead an international consortium of gene-level resources called the Gene Curation Coalition (GenCC). This group of invested users, including members from open source databases and industry partners is working to harmonize approaches to ensure gene-level resources are comparable and interoperable. This allows groups to work together most effectively and to provide consistent and useful resources for the community. Through my work leading this group, I have performed a Delphi survey of the genetics community to harmonize terms describing gene-disease evidence levels and have helped to design an open source website that displays curations from all member groups to inform the genetics community and to facilitate discrepancy resolution.