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INFORMATION FOR

    Monkol Lek, PhD

    Assistant Professor of Genetics
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    About

    Titles

    Assistant Professor of Genetics

    Biography

    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.

    Appointments

    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)

    Research

    Overview

    Medical Research Interests

    Genetics; Genetics, Medical; Genomics; Neuromuscular Diseases

    Research at a Glance

    Yale Co-Authors

    Frequent collaborators of Monkol Lek's published research.

    Publications

    2024

    2023

    2017

    2016

    Clinical Trials

    Current Trials

    Academic Achievements & Community Involvement

    • honor

      Development Grant

    • honor

      CJ Martin Fellowship

    • honor

      Sir Keith Murdoch Fellowship

    • honor

      Australian Post-graduate Award

    • honor

      University Medal

    Get In Touch

    Contacts

    Locations

    • S341C

      Academic Office

      The Anlyan Center

      300 Cedar Street

      New Haven, CT 06519

    • S320

      Lab

      The Anlyan Center

      300 Cedar Street

      New Haven, CT 06519

    Events

    Jan 202514Tuesday