Nicole J. Lake, PhD
she/her/hers
Assistant Professor of GeneticsDownloadHi-Res Photo
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Genetics
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Assistant Professor of Genetics
Biography
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 completed her Ph.D. in mitochondrial genetics with David Thorburn at the Murdoch Children's Research Institute, where she used computational and experimental methods to discover genetic causes of mitochondrial diseases. Following this, she worked as an analyst in translational and mitochondrial genomics. Nicole then completed her postdoctoral training at Yale University with Monkol Lek, where she built and applied tools to improve the discovery of genetic causes of disease and variant classification, with a focus on the mitochondrial genome. Nicole also holds M.Sc. and B.Sc. degrees in Genetics from the University of Melbourne and 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 established her lab in the Yale School of Medicine in 2024.
Last Updated on August 24, 2024.
Appointments
Genetics
Assistant ProfessorPrimary
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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)
Research
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Overview
Medical Research Interests
Computational Biology; DNA, Mitochondrial; Gene Editing; Genetic Diseases, Inborn; Genetic Variation; Genetics; Genetics, Medical; Genetics, Population; Genome, Mitochondrial; Genomics; Human Genetics; Mitochondrial Diseases; Mutation; Rare Diseases
ORCID
0000-0003-4103-6387- View Lab Website
Lake Lab
Research at a Glance
Yale Co-Authors
Frequent collaborators of Nicole J. Lake's published research.
Publications Timeline
A big-picture view of Nicole J. Lake's research output by year.
Research Interests
Research topics Nicole J. Lake is interested in exploring.
Monkol Lek, PhD
Justin Cohen
Former YSMRichard Gibbs
Former YSMAlec DeSimone
Former YSMCassie Overstreet
Chirag Parikh, MD, PhD, FACP
35Publications
1,766Citations
DNA, Mitochondrial
Mitochondrial Diseases
Mutation
Genetic Variation
Genomics
Rare Diseases
Publications
2026
A long-read human pangenome initiative for comprehensive interpretation of nuclear-embedded mitochondrial DNA
Fu L, Chen J, Lian D, Du S, Wu D, Yang C, Wang Z, Ma H, Li Z, Lake N, Yang X, Shi Y, Zhang G, Ma K, Mao Y. A long-read human pangenome initiative for comprehensive interpretation of nuclear-embedded mitochondrial DNA. Nature Communications 2026, 17: 4371. PMID: 42140905, PMCID: PMC13179385, DOI: 10.1038/s41467-026-71348-5.Peer-Reviewed Original ResearchCitationsAltmetricMitochondrial heteroplasmy is a risk factor for the development of chronic lymphocytic leukemia
Pasca S, Hong Y, Shi W, Puiu D, Lake N, Lek M, Guallar E, Arking D, Gondek L. Mitochondrial heteroplasmy is a risk factor for the development of chronic lymphocytic leukemia. Nature Communications 2026, 17: 2898. PMID: 41708630, PMCID: PMC13031533, DOI: 10.1038/s41467-026-69861-8.Peer-Reviewed Original ResearchCitationsAltmetric
2025
Epigenome-wide association study of nuclear DNA methylation in relation to mitochondrial heteroplasmy
Lai M, Kim K, Zheng Y, Castellani C, Ratliff S, Wang M, Liu X, Haessler J, Huan T, Bonsu K, Newcomb C, McKessy K, Bielak L, Zhao W, Joehanes R, Ma J, Guo X, Manson J, Grove M, Bressler J, Taylor K, Lappalainen T, Kasela S, Blackwell T, Lake N, Faul J, Ferrier K, Ekker S, Hou L, Kooperberg C, Reiner A, Zhang K, Peyser P, Fornage M, Boerwinkle E, Raffield L, Carson A, Rich S, Liu Y, Levy D, Rotter J, Smith J, Arking D, Liu C. Epigenome-wide association study of nuclear DNA methylation in relation to mitochondrial heteroplasmy. Nature Communications 2025, 16: 10962. PMID: 41330919, PMCID: PMC12689632, DOI: 10.1038/s41467-025-65845-2.Peer-Reviewed Original ResearchCitationsAltmetricAssociation of Epigenetic Age Acceleration and Mitochondrial DNA‐Based Aging Metrics Provides Insights Into Mechanisms of Aging‐Related Diseases
Wang M, Zheng Y, Lai M, Saake E, Liu X, Guo X, Taylor K, Huan T, Joehanes R, Nannini D, Zhang K, Lake N, Castellani C, Rich S, Rotter J, Liu Y, Raffield L, Carson A, Fornage M, Ma J, Arking D, Hou L, Levy D, Liu C. Association of Epigenetic Age Acceleration and Mitochondrial DNA‐Based Aging Metrics Provides Insights Into Mechanisms of Aging‐Related Diseases. Aging Cell 2025, 24: e70279. PMID: 41132105, PMCID: PMC12686565, DOI: 10.1111/acel.70279.Peer-Reviewed Original ResearchCitationsAltmetricPathogenic UNC13A variants cause a neurodevelopmental syndrome by impairing synaptic function
Asadollahi R, Ahmad A, Boonsawat P, Shahanoor Hinzen J, Lohse M, Bouazza-Arostegui B, Sun S, Utesch T, Sommer J, Ilic D, Padmanarayana M, Fischermanns K, Ranjan M, Boll M, Ka C, Piton A, Mattioli F, Isidor B, Õunap K, Reinson K, Wojcik M, Marshall C, Mercimek-Andrews S, Matsumoto N, Miyake N, Stephan B, Honjo R, Bertola D, Kim C, Yusupov R, Mefford H, Christodoulou J, Lee J, Heath O, Brown N, Baker N, Stark Z, Delatycki M, Lake N, Zeidler S, Zuurbier L, Maas S, de Kruiff C, Rajabi F, Rodan L, Coury S, Platzer K, Oppermann H, Abou Jamra R, Beblo S, Maxton C, Śmigiel R, Underhill H, Dubbs H, Rosen A, Helbig K, Helbig I, Ruggiero S, Fitzgerald M, Kraemer D, Prada C, Tenney J, Jayakar P, Redon S, Lefranc J, Uguen K, Race S, Efthymiou S, Maroofian R, Houlden H, Coppens S, Deconinck N, Ashokkumar B, Varalakshmi P, Gowda K V, Eghbal F, Ghayoor Karimiani E, Heidari M, Neidhardt J, Owczarek-Lipska M, Korenke G, Bamshad M, Campeau P, Lehman A, Hendon L, Wentzensen I, Monaghan K, Chen Y, Szuto A, Cohn R, Au P, Hübner C, Boschann F, Manickam K, Koboldt D, Rad A, Oprea G, Bachman K, Seeley A, Agolini E, Terracciano A, Carmelo P, Bupp C, Grysko B, Rein-Rothschild A, Ben Zeev B, Margolin A, Morrison J, Dagli A, Stolerman E, Louie R, Washington C, Stevens S, Heijligers M, Alkuraya F, Lisfeld J, Neu A, Paoli Monteiro F, Santos Pessoa A, Camelo-Filho A, Kok F, Koeberl D, Riley K, Burglen L, Doummar D, Héron B, Mignot C, Keren B, Charles P, Nava C, Bernhard F, Kühn A, Thoms S, Morrie R, Mekhoubad S, Green E, Barmada S, Gitler A, Jahn O, Rhee J, Rosenmund C, Mitkovski M, Sticht H, Sun H, Le Gac G, Taschenberger H, Brose N, Dittman J, Rauch A, Lipstein N. Pathogenic UNC13A variants cause a neurodevelopmental syndrome by impairing synaptic function. Nature Genetics 2025, 57: 2691-2704. PMID: 41125872, PMCID: PMC12597829, DOI: 10.1038/s41588-025-02361-5.Peer-Reviewed Original ResearchCitationsAltmetricReversible compromise of physiological resilience by accumulation of heteroplasmic mtDNA mutations
Huang H, Wang Y, Zsengeller Z, Gorham J, Vemireddy V, Clark A, Pan H, Dreyfuss J, Jotwani V, Shlipak M, Sarnak M, Parikh C, Thiessen-Philbrook H, Katz R, Waikar S, Lake N, Lek M, Shi W, Puiu D, Hong Y, Seidman J, Arking D, Parikh S. Reversible compromise of physiological resilience by accumulation of heteroplasmic mtDNA mutations. Science 2025, 390: 164-172. PMID: 40906782, PMCID: PMC12892176, DOI: 10.1126/science.adk7978.Peer-Reviewed Original ResearchCitationsAltmetricA contextual genomic perspective on physical activity and its relationship to health, well being and illness
Galimberti M, Levey D, Deak J, Adhikari K, Overstreet C, Gupta P, Nitin R, Zhou H, Lake N, Harrington K, Djousse L, Davis L, Gaziano J, Stein M, Gelernter J. A contextual genomic perspective on physical activity and its relationship to health, well being and illness. Nature Genetics 2025, 57: 1860-1871. PMID: 40691405, PMCID: PMC12339386, DOI: 10.1038/s41588-025-02260-9.Peer-Reviewed Original ResearchCitationsAltmetricUntargeted proteomics enables ultra-rapid variant prioritisation in mitochondrial and other rare diseases
Hock D, Caruana N, Semcesen L, Lake N, Formosa L, Amarasekera S, Stait T, Tregoning S, Frajman L, Bournazos A, Robinson D, Ball M, Reljic B, Ryder B, Wallis M, Vasudevan A, Beck C, Peters H, Lee J, Tan N, Freckmann M, Karlaftis V, Attard C, Monagle P, Samarasinghe A, Brown R, Bi W, Lek M, McFarland R, Taylor R, Ryan M, Cooper S, Stark Z, Christodoulou J, Compton A, Thorburn D, Stroud D. Untargeted proteomics enables ultra-rapid variant prioritisation in mitochondrial and other rare diseases. Genome Medicine 2025, 17: 58. PMID: 40400026, PMCID: PMC12096736, DOI: 10.1186/s13073-025-01467-z.Peer-Reviewed Original ResearchCitationsAltmetricRevealing secrets of human genetic variation with population databases
Lake N. Revealing secrets of human genetic variation with population databases. Nature Reviews Genetics 2025, 26: 377-377. PMID: 40316690, DOI: 10.1038/s41576-025-00848-9.Peer-Reviewed Original ResearchAltmetricMitochondrial DNA variant detection in over 6,500 rare disease families by the systematic analysis of exome and genome sequencing data resolves undiagnosed cases
Stenton S, Laricchia K, Lake N, Chaluvadi S, Ganesh V, DiTroia S, Osei-Owusu I, Pais L, O’Heir E, Austin-Tse C, O’Leary M, Abu Shanap M, Barrows C, Berger S, Bönnemann C, Bujakowska K, Campagna D, Compton A, Donkervoort S, Fleming M, Gallacher L, Gleeson J, Haliloglu G, Pierce E, Place E, Sankaran V, Shimamura A, Stark Z, Tan T, Thorburn D, White S, Zaki M, Consortium G, Vilain E, Lek M, Rehm H, O’Donnell-Luria A. Mitochondrial DNA variant detection in over 6,500 rare disease families by the systematic analysis of exome and genome sequencing data resolves undiagnosed cases. Human Genetics And Genomics Advances 2025, 6: 100441. PMID: 40241304, PMCID: PMC12278631, DOI: 10.1016/j.xhgg.2025.100441.Peer-Reviewed Original ResearchCitationsAltmetric
Academic Achievements & Community Involvement
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Honors
honor Blavatnik Regional Young Scientist Finalist Award
09/17/2024National AwardBlavatnik Family Foundationhonor Excellence in Mitochondrial Research Award
09/14/2020National AwardMito FoundationDetailsAustraliahonor CJ Martin Early Career Fellowship
01/01/2019National AwardAustralian National Health and Medical Research Council (NHMRC)DetailsAustraliahonor Qantas Research Scholar
01/01/2019International AwardAmerican Australian AssociationDetailsUnited Stateshonor AMDF Advocacy Award
08/01/2016National AwardAustralian Mitochondrial Disease FoundationDetailsAustralia
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