Monkol Lek, PhD
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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
Genetics
Assistant ProfessorPrimary
Other Departments & Organizations
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
Academic Achievements and Community Involvement
Links & Media
News
- June 07, 2024
Polycystic Kidney Disease Treatment: Gene Target Identified at Yale
- May 20, 2022
Single Cell Analysis Technologies Help Generate Unprecedented Maps of Disease
- August 31, 2021
Yale Geneticist With Rare Disease to Build Pediatric Cell Atlas of Skeletal Muscle
- June 02, 2021
YSM Dean’s Workshop Highlights Collaborative Future of Genomic Healthcare