I am a senior biocurator with ClinGen expert panels performing gene and variant curation within several clinical domains, including hemostasis and thrombosis, inborn errors of metabolism, immunology, and ocular, neuromuscular, and neurodegenerative disorders. My background in Human Genetics has equipped me well for my role as a biocurator, which I have assumed since June 2018. At present, I perform this role in eight variant curation and eight gene curation expert panels and work with international collaborators to establish the clinical validity of genes and interpret the clinical significance of gene variants. Through this role, I have also gained experience and expertise in identifying gene-specific and disease-specific considerations for the specification of variant interpretation guidelines.

Within the Myeloid Malignancy variant curation expert panel, I have been involved in the specification of the ACMG/AMP guidelines for variant interpretation in genes known to confer a risk for myeloid malignancies, including RUNX1, GATA2 and DDX41. In order to specify the disease-related ACMG/AMP codes for GATA2, I am currently working with expert clinicians and researchers to develop a consensus definition of GATA2 deficiency, which will inform the specification of variant curation rules for the gene.