Nicole J. Lake, PhD

Nicole's research career reflects her long-standing interest in understanding how genetic variation contributes to health and disease, and passion for mitochondrial genomics. Nicole commenced her postdoctoral training in 2019 in the Yale School of Medicine with Monkol Lek, where she has built and applied tools to improve the discovery of genetic causes of disease and variant classification, with a focus on the mitochondrial genome. Nicole completed her Ph.D. in mitochondrial research with David Thorburn at the Murdoch Children's Research Institute, where she used computational and experimental methods to discover genetic causes of mitochondrial diseases. Prior to this, Nicole completed her M.Sc. (Genetics) research at the Baker Heart and Diabetes Institute, where she studied the genetic basis of cholesterol metabolism, identifying drug targets for cardiovascular disease. She also holds a B.Sc. majoring in Genetics from the University of Melbourne and the University of Edinburgh.

Nicole’s professional experience includes university teaching, clinical genetic testing, media interviews, peer review, science outreach, as well as national, institutional, and departmental committee service and leadership. She is now an incoming Assistant Professor in the Yale Center of Genomic Health and Department of Genetics, and will establish her lab in January 2024.