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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 Subject Headings (MeSH)

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

2015

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