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Monkol Lek, PhD

Assistant Professor of Genetics

Contact Information

Monkol Lek, PhD

Lab Location

  • The Anlyan Center
    300 Cedar Street
    New Haven, CT 06519

Office Location

  • The Anlyan Center
    300 Cedar Street
    New Haven, CT 06519



Monkol received an undergraduate degree in Engineering (Computer Engineering) in 2000 at the University of New South Wales (UNSW) and then worked for IBM for 3.5 years. He returned to UNSW and completed undergraduate degrees in Science (Physiology) and Engineering (Bioinformatics) and received the University Medal in 2007. He completed his PhD (Medicine) at the University of Sydney in 2012 with the thesis topic: Functional differences between alpha-actinin-2 and alpha-actinin-3. Monkol did his post-doctoral training in Daniel MacArthur’s lab based at Massachusetts General Hospital, Harvard Medical School and the Broad Institute.

He was the lead author/analyst for the Exome Aggregation Consortium (ExAC) project that was published in Nature 2016. He went on to lead the NIH funded Broad Center for Mendelian Genomics (CMG) analysis team. As lead analyst, he oversaw the analysis strategy for all major CMG collaborations and organized monthly meetings to foster sharing of new methods and analysis amongst the rare disease community. He also coordinated the data processing and preliminary analysis of NIH Gabriella Miller Kids First (GMKF) cohorts sequenced or reprocessed at the Broad Institute.

Monkol has a strong passion for rare muscle disease research as a patient with Limb Girdle Muscular dystrophy (LGMD2G). During his time in the Broad Institute, he lead the exome/genome analysis of MYOSEQ (European cohort of >1000 LGMD patients) and SeqNMD (an international consortium of undiagnosed rare muscle diseases) which has resulted in novel disease gene discovery.

Education & Training

  • Senior Research Fellow
    Broad Institute of MIT and Harvard (2017)
  • Post-doctoral Fellow
    Harvard Medical School (2016)
  • PhD
    University of Sydney, Medicine (2012)
  • BSc
    University of New South Wales, Physiology (2007)
  • BE
    University of New South Wales, Bioinformatics (2007)
  • BE
    University of New South Wales, Computer Engineering (2001)

Honors & Recognition

AwardAwarding OrganizationDate
Development GrantMuscular Dystrophy Association2016
CJ Martin FellowshipAustralian National Health and Medical Research Council (NHMRC)2013
Sir Keith Murdoch FellowshipAustralian American Association2012
Australian Post-graduate AwardUniversity of Sydney2009
University MedalUniversity of New South Wales2008

Departments & Organizations