Dr. Courtney Thaxton earned her B.S. in Microbiology and Molecular biology her Ph.D. in Biomolecular Sciences both from the University of Central Florida. Her background is in signal transduction and cell biology. As a postdoc, Courtney delved into the world of genetics through the generation and characterization of mouse models of human disease(s). She has also worked closely with patients and families afflicted with genetic disorders through her previous work, including Pitt-Hopkins Syndrome. This experience further spurred her interest in genetics and specifically clinical molecular genetics.
Currently, Courtney is a biocurator for ClinGen where she curates gene-disease relationships for cardiomyopathy, neurodevelopmental disorders (including ID/Autism and Epilepsy), monogenic diabetes, syndromic genes, and soon neuromuscular disorders. She is the current chair of the Lumping and Splitting Working Group that aims to help define and refine disease entities for curation and the chair of the Community Curation Working Group that promotes, coordinates, and organizes volunteer efforts for curation. She is also the UNC Biocuration core software liaison and is an active member of the Data Platform Working Group and Software Prioritization, and has helped in the design and testing of databases for more effective curation workflow, including a Gene Tracking database. She is also a member of the Gene Curation Working Group small group that delves into identifying, updating, and specifying criteria for enhanced gene curation. Other group memberships include the Biocurator Working Group Planning Group and the Education, Coordination, and Training Working Group.
Outside of work Courtney enjoys cooking and spending time with family.
