The Department of Genetics is proud to highlight Dr. Courtney Thaxton for her excellence in research, teaching, and mentoring.
Dr. Thaxton was promoted to Associate Professor in July 2024 and serves as the Director of the ClinGen-affiliated UNC Biocuration and Coordination Core.
Dr. Thaxton’s research program is focused on defining the clinical relevance of genes and genetic variants as part of the Clinical Genome Resource (ClinGen). She is the Director of the ClinGen-affiliated UNC Biocuration and Coordination Core (UNC BCC) that supports staff scientists with expertise in biocuration and project management to support over 70 expert panels (out of 120 active expert panels) and 14 working groups within ClinGen. The work involves the extraction, organization, and annotation of data in a structured format that can be accessed and used by computers and humans (the definition of biocuration), thus creating a harmony of work between clinical sciences and data science. Dr. Thaxton’s work has been supported primarily by the National Human Genome Research Institute (NHGRI) through U24 funding and grants from industry partners.
Currently, Dr. Thaxton is interested in defining the disease entity of monogenic diseases, which involves reviewing and updating ontologies of genetic disorders in collaboration with the Mondo Disease Ontology (Haendel group) and providing guidance for when disease nomenclature may need updating through her work in the ClinGen Curated Disease Entity (CDE) Working Group. As our understanding of the molecular mechanism(s) that cause genetic diseases expands and/or improves, so must how we categorize and name diseases. A rewarding part of this work for Dr. Thaxton is that patient foundations and advocacy groups have sought guidance from the CDE working group on disease nomenclature based on the group’s published work.
Dr. Thaxton is passionate about teaching and mentoring the next generation of scientists. As part of the UNC BCC, she has consistently promoted and fostered mentorship opportunities, including summer internships for high schoolers, undergrads, and postbacs to full semester studies, including in partnership with participating in UNC programs like EDGE, SOLAR, the UNC Chancellor’s science scholars, and more. She has also collaborated with fellow UNC faculty and staff to present career pathways in genetics as part of the UNC Program for Precision Medicine and Health Care PARADIGM program, both as individual presentations and as part of the collaborative Genetics-in-a-day annual workshop with North Carolina Central University. In ClinGen, Dr. Thaxton developed a web-based annotation activity, called Baseline Annotation, as a way for volunteers, from citizen scientists to genetic professionals, to contribute to ClinGen. Over the past 5+ years, she has trained hundreds of individuals to annotate biomedical literature, a fundamental part of the biocuration process. Baseline annotation has reaffirmed her belief that, regardless of background, we can teach almost anyone to curate.
Beyond the lab and genetics, Dr. Thaxton enjoys gardening, cooking, painting, and sports cars (a love imparted by her father). She can be found out in the yard or at a local garden center with her family on most weekends (rain or shine), looking for the next new member of the garden, or photographing the latest bloom.