Tackling muscular dystrophy every step of the way

Dr Monkol Lek is a leading researcher in muscular dystrophy, a rare genetic disease affecting nerves and muscles around the body.  Dr Lek is all too familiar with the disease, having suffered from muscle weakness in his legs while at university, which led, over ten years later, to a diagnosis of limb girdle muscular dystrophy.

After leaving his job as a computer engineer and retraining as a genetic scientist and bioinformatician, Monkol joined the Institute for Neuroscience and Muscle Research, now known as the Kids Neuroscience Centre at Kids Research.  

It was here that he and his wife Angela, true partners in everything they do, completed their PhDs in Medicine through the University of Sydney.  Monkol completed his under the supervision of Dr Nan Yang and Professor Kathryn North, while Angela was supervised by Prof. North and Professor Sandra Cooper, both leaders in investigating and identifying the genetic causes of nerve and muscle disorders. 

Recognising their talent and drive, their mentors and supervisors in Sydney encouraged them to pursue postdoctoral positions overseas. Both Monkol and Angela were awarded an NHMRC Early Career Fellowship, and the American Australian Association Sir Keith Murdoch Fellowship, supporting them to continue their research careers in Boston.   

Here Monkol worked with former Kids Neuroscience colleague Dr Daniel MacArthur at the Broad Institute of MIT and Harvard, world leaders in genomic sequencing and close collaborators of Professor Sandra Cooper’s Gene Discovery group.  Meanwhile, Angela took up a position at Harvard University studying muscular dystrophy under Professor Louis Kunkel.

Earlier this year, the Leks moved to Yale University where Monkol started his own research group to continue research into rare neuromuscular disorders.  While continuing to find answers for patients without a diagnosis, he and Angela are also interested in the possibilities of correcting faulty genes with gene editing.

"For the first time we feel really hopeful that there may be something around the corner, and to be the one in the lab working with it, as opposed to just sitting on the sidelines, it's really exhilarating," Dr Angela Lek says of her laboratory research.

The Leks have helped countless patients and families arrive at a diagnosis for their condition since their research careers began at Kids Neuroscience Centre. As well as opening up avenues for potential treatment and management strategies, a diagnosis also provides hope to patients.

To find out more about where they are now read the article from ABC News or watch the video from ABC’s 7:30 Report.