Monkol Lek

Monkol Lek is an Associate Professor in Genetics at Yale School of Medicine. His research focuses on rare genetic diseases, particularly neuromuscular disorders such as limb-girdle muscular dystrophy (LGMD2G), leveraging genomic and proteomic approaches. He leads projects including the Exome Aggregation Consortium (ExAC) and NIH-funded Broad Center for Mendelian Genomics analysis teams. Dr. Lek’s work bridges computational genomics with clinical applications, aiming to improve diagnostics and therapies. He holds a PhD in Medicine from the University of Sydney and completed postdoctoral training at Harvard Medical School and the Broad Institute.

Education: BEng (Computer Engineering) and BSc (Physiology) from UNSW Sydney (2001, 2007), PhD (Medicine) from University of Sydney (2012). Postdoctoral research at Massachusetts General Hospital and Broad Institute.

Research interests span genomic constraint analysis, mitochondrial DNA variants, and translational rare disease research. His lab develops high-throughput assays and functional genomics tools to interpret genetic variants. Key contributions include advancing exome/genome sequencing for undiagnosed diseases and identifying novel disease genes through large-scale genomic studies.

Awards include CJ Martin Fellowship (2013) and Sir Keith Murdoch Fellowship (2012). His lab collaborates globally, including SeqNMD and MYOSEQ consortia. Current research emphasizes precision gene editing (e.g., CRISPR-Cas12a) and mitochondrial heteroplasmy’s role in disease risk.

Lek Lab’s translational efforts target therapies for polycystic kidney disease and collagen-related dystrophies. He is affiliated with multiple centers at Yale, including the Center for Biomedical Data Science and Yale Center for Genomic Health.