How refugee and geneticist Monkol Lek is curing his own disease

20 May 2019
Living in western Sydney and in his early twenties, Monkol Lek was struck with a rare medical condition - muscular dystrophy. Now his groundbreaking research could be game changing for people living with the condition.
Monkol and Angela Lek in cap and gown at University of Sydney

Monkol and his wife Angela Lek.

Monkol Lek’s life changed forever when he found out about his rare medical condition – limb-girdle muscular dystrophy. When his physical health continued to deteriorate and he could no longer walk down the train station steps, he used his frustration as a catalyst to pursue a life dedicated to finding treatments and a cure for rare genetic diseases.

Monkol is currently an Assistant Professor of Genetics at Yale University – where he established the Lek Lab, a group of scientists dedicated to uncovering rare genetic diseases.

We sat down with Monkol ahead of his appearances at Sydney Ideas and TEDxSydney to reflect on the journey that made the man and what he’s looking forward to in the future.

You had a very different career before going into science. What was that like, and why did you make the switch?

I worked in IBM as a security analyst and software developer. This was my dream job, and something I studied very hard to get into.

In my early 20s, I received a clinical diagnosis for muscular dystrophy. Initially, it did not change my life, as I was in denial for many years. Each year, my mobility got worse, and I could no longer ignore it.

I grew frustrated in my job at IBM because I felt like I should be contributing to the research efforts in muscular dystrophy. I wanted to understand everything about my disease and wanted a formal education to go along with that.

After completing a degree in science, you continued to study and started your research career with a PhD at the University of Sydney – what made you keep going?

I still didn't have a genetic diagnosis for my disease and wanted to join the lab at the University of Sydney, which was working on finding the disease gene, causing my muscular dystrophy. I knew this would give me a better understanding of how the discovery process would work on myself and others.

My whole time at USYD was based at the Children’s Hospital in Westmead. I was very fortunate to work with a very talented group of students and scientist in my lab and also a fantastic mentor, Professor Kathryn North.

Kathy trained me in all aspects of research and was extremely encouraging in every research direction that I pursued. I was fortunate to go on the PhD journey in the lab with my wife, Angela, who was very inspirational and supportive during this time. 

My experiences and publications at the University of Sydney were the springboard to my career, including successful fellowship applications when I was overseas. During my time in Kathy's lab, I met another PhD student, Daniel MacArthur, who became my future boss in Boston after I completed my PhD.

Daniel provided amazing opportunities to work on the largest projects in human genetics when I was in his lab at the Broad Institute. His mentorship gave me a strong foundation in big data genomics and the analytical thinking that's required.

Since then you’ve dedicated your life to rare genetic diseases research, what’s been your highlight so far?

My major accomplishment was working on a database of human protein-coding genetic variation from over 60,000 individuals. We created a resource that’s used by all clinical genetic labs around the world to help interpret and discover pathogenic variants in rare disease patients.

The scientific community use this resource to determine the likelihood of novel disease-gene associations. The manuscript from the project was published in Nature and is still being cited approximately three times a day.

What are you working on in the next few years?

Currently, there is no cure and very little treatment for patients with rare genetic diseases. I'm excited to work on translating the genetic diagnosis in rare disease patients to therapies using the recently available genetic editing technologies.

TEDx’s theme for 2019 is legacy – what do you want your legacy to be?

I want to be known for working on discoveries that help rare disease patients. For me, the treatment for my muscle disease would mean I could repay all the people that have been so kind to me in catering for my disabilities. I hope for others that treatment will allow them to enjoy a normal happy life!

Article by Sophia Ioannidis