Monkol Lek, Ph.D., assistant professor of genetics and rare disease researcher, Yale School of Medicine

Sitting at his desk one day, computer engineer Monkol Lek decided he needed to switch careers. He became a scientist not because he was particularly passionate about science, but because he wanted to solve problems plaguing himself as a rare disease patient.

“I was dissatisfied that: one, I didn’t know what was the genetic cause of my disease; two, that I didn’t know how hard it was to find; and three, that there wasn’t anyone doing something about it,” Lek says.

He decided he was going to take action and help find answers.

Now an assistant professor of genetics and rare disease researcher at Yale School of Medicine, Lek has limb-girdle muscular dystrophy, which causes weakness in arm and leg muscles. It has pushed him to study extremely rare diseases caused by mutations in genes. His lab’s focus is on turning research into genetic therapies that help patients.

“I’m not just interested in understanding why someone has a disease, but in what we can actually do about it,” Lek says.

Lek’s primary focus is administering the Pediatric Cell Atlas, a 10-colleague project funded by a $3 million grant from the Chan Zuckerberg Initiative. The project’s goal is to catalog how healthy muscles change as children become adults so that researchers can better understand how development goes awry in muscle diseases.

“By understanding how gene expression changes within cells from different muscle groups, and how the proportion of the cell types change during development, the atlas will give us understanding on why these different muscle groups are affected in disease,” Lek says. “It will overall provide a reference panel of healthy tissue to compare to diseased tissue.”

In projects like these, Lek’s previous life as a computer engineer is hugely beneficial. It trained him to work with the kind of large data sets that have become the norm in science and specifically genetics.

“Finding a patient’s genetic mutation is like finding a needle in the haystack, because we’re going through millions of data points. A lot of this work requires computational approaches,” Lek says.

Being diagnosed with a rare disease has pushed Lek’s life and career in a different direction than he originally intended. Growing up as a Cambodian refugee in working-class suburbs of Sydney, Australia, “my goal, before I knew I had this rare muscle disease, was to get rich during the internet boom and just play computer games for the rest of my life,” he says. “But it wasn’t meant to be.”

Lek now lives with his wife and three rescue dogs in New Haven, Conn. In his spare time, Lek does still like to play video games and stream on Twitch.

Philip Morris International does not fund the rare disease research of Monkol Lek, Ph.D.