Skip to Main Content

Nicole J. Lake, PhD

Research Scientist in Genetics

Contact Information

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 2024.

Education & Training

  • Postdoctoral Fellow/Associate
    Yale University (2022)
  • PhD
    University of Melbourne (2018)
  • MSc
    University of Melbourne, Genetics (2012)
  • BSc
    University of Melbourne & University of Edinburgh, Genetics (2010)

Honors & Recognition

AwardAwarding OrganizationDate
Excellence in Mitochondrial Research AwardMito Foundation2020
CJ Martin Early Career FellowshipAustralian National Health and Medical Research Council (NHMRC)2019
Qantas Research ScholarAmerican Australian Association2019
AMDF Advocacy AwardAustralian Mitochondrial Disease Foundation2016
New Investigator AwardHuman Genetics Society of Australasia2016
Paul Harris FellowRotary International2016
Australian Postgraduate AwardUniversity of Melbourne2013
Master of Science National ScholarshipUniversity of Melbourne2011

Departments & Organizations