معرفی
Nicole J. Lake is an Assistant Professor of Genetics at Yale School of Medicine, Yale University. She leads the Lake Lab, established in 2024, focusing on mitochondrial genomics and genetic variation in health and disease. Her research integrates computational and experimental methods to uncover genetic causes of mitochondrial disorders, with applications in rare disease diagnosis and precision medicine. Lake holds a PhD in mitochondrial genetics (2018, University of Melbourne) and completed postdoctoral training at Yale under Monkol Lek. She also earned an MSc (2012) and BSc (2010) in Genetics from the University of Melbourne and University of Edinburgh.
Her research interests span mitochondrial genomics, rare diseases, genetic variation, and computational biology. Notable contributions include developing tools like MitoVisualize for mitochondrial variant analysis and leading the Australian Genomics Mitochondrial Flagship program. Lake has been recognized with awards such as the Blavatnik Regional Young Scientist Finalist Award (2024) and Excellence in Mitochondrial Research Award (2020).
Key publications include work on mitochondrial DNA variant detection in rare diseases, heteroplasmy's role in cancer risk, and functional assays for disease gene analysis. She collaborates with institutions globally, emphasizing interdisciplinary approaches to genomic medicine. Current initiatives aim to improve variant interpretation and advance mitochondrial disease diagnostics.
Lake's lab is part of the Genetics Department and affiliated with programs like the Janeway Society and Molecular Cell Biology. Her work bridges basic science and clinical translation, addressing gaps in understanding mitochondrial dysfunction and its clinical implications.
