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Dr Monkol Lek: Using large-scale genomic data sets to improve the diagnosis of rare disease



Children’s Medical Research Institute Seminar Room

Presentation 1:

Dr Monkol Lek, Massachusetts General Hospital and Broad Institute of Harvard and MIT
Using large-scale genomic data sets to improve the diagnosis of rare disease
Monkol received an undergraduate degree in Engineering (Computer Engineering) in 2000 at UNSW and then worked for IBM for 3.5 years. He returned to UNSW and completed undergraduate degrees in Science (Physiology) & Engineering (Bioinformatics), receiving the University Medal in 2007. He completed his PhD (Medicine) at University of Sydney in 2012 with the thesis topic: Functional differences between alpha-actinin-2 and alpha-actinin-3.
Monkol moved to Boston in 2012 and works at Massachusetts General Hospital and the Broad Institute of Harvard and MIT with an academic affiliation with Harvard Medical School. He currently works in Boston as the lead analyst on three large projects: the Exome Aggregation Consortium (ExAC), a large consortium of undiagnosed rare muscle disease (SEQ-NMD and MYO-SEQ) and also the NIH Center for Mendelian Genomics (CMG). During the years overseas, he has been generously supported by the Australian American Association (Sir Keith Murdoch fellowship) and the NHMRC (CJ Martin fellowship).

Presentation 2:

Dr Angela Lek, Boston Children’s Hospital
Using zebrafish and genome-wide knock-out approaches to study the pathophysiology of FSHD
Angela received her undergraduate degree in Bioinformatics at UNSW in 2006. She joined the Institute for Neuroscience and Muscle Research at The Children’s Hospital at Westmead in 2007, and completed her PhD with Dr Sandra Cooper on studies of dysferlin-deficient muscular dystrophy. She now works in the Kunkel lab at Boston Children’s Hospital as a postdoctoral fellow working on FSHD muscular dystrophy.
Angela has been funded by several fellowships during her postdoctoral career, including the Wellstone postdoctoral fellowship, American Australian Association fellowship and an NHMRC Early Career Fellowship.