Nicole J. Lake

Recognized for:
Developing novel tools to study genetic variation in mitochondrial DNA (mtDNA) to improve genetic diagnostics for patients with rare diseases.

Areas of Research Interest and Expertise:
Human genetics, mitochondrial genomics, rare disease

Previous Positions:

BSc, University of Melbourne, Australia
BSc, University of Edinburgh, United Kingdom
Research Assistant, Baker Heart and Diabetes Institute, Australia
MSc, University of Melbourne, Australia
Lead Tutor, Genetics Health and Society, University of Melbourne, Melbourne
PhD, University of Melbourne, Australia
Lecturer, RMIT University, Australia
Clinical Analyst, Victorian Clinical Genetics Services, Australia
Research Assistant, Murdoch Children’s Research Institute, Australia
Postdoctoral Fellow/Associate, Yale University (Advisor: Monkol Lek)
Associate Research Scientist, Yale University (Advisor: Monkol Lek)

Research Summary:

Nicole Lake, PhD, is unveiling the secrets of mitochondrial DNA (mtDNA) to understand its critical role in rare genetic diseases at a population level. Lake has established new tools for the study of mtDNA, including a large-scale mtDNA database and a statistical model that allows us to predict which regions of mtDNA are associated with disease. These tools have increased the efficacy of genetic diagnoses for rare diseases, which typically fail about 50% of the time. Lake’s work has also provided a more accurate estimation of how often rare diseases occur in a population, a crucial component in establishing new clinical trials.  

“My work focuses on identifying genetic causes of disease, especially in overlooked parts of our DNA, to help realize the promise of genomic medicine. I’m grateful for this recognition; it’s a wonderful motivation as I work towards new discoveries.”

Key Publications:

1. N.J. Lake*, K. Ma, W. Liu, S.L. Battle, K.M. Laricchia, G. Tiao, D. Puiu, K.K. Ng, J. Cohen, A.G. Compton, S. Cowie, J. Christodoulou, D.R. Thorburn, H. Zhao, D.E. Arking, S. Sunyaev, M. Lek*. Quantifying constraint in the human mitochondrial genome. Nature (in press), 2024. *Co-corresponding author.
2. N.J. Lake*, L. Zhou, J. Xu, M. Lek*. MitoVisualize: A resource for analysis of variants in human mitochondrial RNAs and DNA. Bioinformatics, 2022. *Co-corresponding author.
3. K.M. Laricchia*, N.J. Lake*, N.A. Watts, M. Shand, A. Haessly, L. Gauthier, D. Benjamin, E. Banks, J. Soto, K. Garimella, J. Emery, Genome Aggregation Database Consortium, H.L. Rehm, D.G. MacArthur, G. Tiao, M. Lek, V.K. Mootha, S.E. Calvo. Mitochondrial DNA variation across 56,434 individuals in gnomAD. Genome Research, 2022. *Co-first author.
4. S.M. Baxter, J.E. Posey, N.J. Lake, N. Sobreira, J.X. Chong, S. Buyske, E.E. Blue, L.H. Chadwick, Z.H. Coban-Akdemir, K.F. Doheny, C.P. Davis, M. Lek, C. Wellington, S.N. Jhangiani, M. Gerstein, R.A. Gibbs, R.P. Lifton, D.G. MacArthur, T.C. Matise, J.R. Lupski, D. Valle, M.J. Bamshad, A. Hamosh, S. Mane, D.A. Nickerson, Centers for Mendelian Genomics Consortium, H.L. Rehm, A. O’Donnell-Luria. Centers for Mendelian Genomics: A decade of facilitating gene discovery. Genetics in Medicine, 2022.

Other Honors:

2020 Excellence in Mitochondrial Research Award, Mito Foundation
2019 Early Career Fellowship, National Health and Medical Research Council
2019 Qantas Scholarship, American Australian Association
2018 Research Prize, Alfred Medical Research and Education Precinct
2016 New Investigator Award, Human Genetics Society of Australasia
2016 Advocacy Award, Australian Mitochondrial Disease Foundation
2013 Australian Postgraduate Award, University of Melbourne
2012 Dean’s Honours List in Master of Science, University of Melbourne
2011 Master of Science National Scholarship, University of Melbourne
2010 Dean’s Honours List in Bachelor of Science, University of Melbourne

In the Media:

Spectrum News – Unlocking the mitochondrial genome for autism research

Mito Foundation – Emerging Scientists

Bendigo Magazine – All in the Genes

The Australian Newspaper – Hope for Ivy as illness test cuts through the guesswork

Herald Sun – New test for mitochondrial disease set to improve ability to diagnose

Websites:

The Lake Lab
Yale School of Medicine: Profile
LinkedIn
Twitter