26. Meet an Expert: The Rare Disorder Podcast X Dr. Monkol Lek

The Rare Disorder Podcast

In this episode, I chat with Dr. Monkol Lek, who is an assistant professor of genetics at Yale University, and an avid researcher with his own established lab, the Lek Lab, at Yale Medical School. He is also part of the research team at Cure Rare Disease, an organization with a mission to develop custom therapeutics that are as unique to the individuals they are meant to treat. In this podcast, Dr. Lek discusses what piqued his interest in rare disease research, his extensive background and experience, topics of interest, and much more!

Dr. Lek 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. Dr. Lek then 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. Dr. Lek then 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.

Dr. Lek 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 led 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.

Now, Dr. Lek has his own established lab, the Lek Lab. The Lek lab was established in January 2018 at Yale School of Medicine and is focused on understanding the genetic mechanism of rare diseases that may lead to rational approaches for therapies.

Learn about Cure Rare Disease, an organization Dr. Lek researches for!

Website: https://www.cureraredisease.org/

Instagram: https://www.instagram.com/cureraredisease/

-----

Hope you all enjoyed this one; See you on Saturday for a new episode!

In the meantime, keep up to date with my podcast and involvement (Lately, I've been cross-podcasting!): https://linktr.ee/theraredisorderpodcast

Shivani Vyas ☺

--- Support this podcast: https://podcasters.spotify.com/pod/show/theraredisorderpodcast/support