Yale School of Medicine rare disease researcher is also a patient

Geneticist Monkol Lek, PhD, may study rare diseases, but the subject is far from academic for him.

That’s because Lek has a rare disease, a form of muscular dystrophy that requires him to use a wheelchair at times. His real-life experience has led him to eschew pure research in favor of finding practical treatments, an ethos he has brought to the research lab he runs in the Anlyan Center at Yale School of Medicine.

“Because I am a rare disease sufferer, I want to do more than deliver bad news faster,” says the blunt-speaking and ebullient Australian. “When you have a parent crying, saying, ‘my child is wasting away, dying of this disease,’ they don’t want to hear about the mechanism by which it works, they don’t want to hear about major genetic publications, they don’t want to hear, ‘Give me another 20 years.’ They want to know about gene therapy and how you are going to apply that technology to their child.”

Thursday, Feb. 28, will be an important day for Lek and his fellow researchers. It is Rare Disease Day, so designated due to its proximity to the rare leap year day of Feb. 29. Lek will mark the occasion by delivering a lecture at Quinnipiac School of Medicine, while other Yale colleagues will travel to Hartford to talk with lawmakers about rare diseases.

The day is especially useful in raising awareness of rare diseases, which in addition to muscular dystrophy include cystic fibrosis, hemophilia, and sickle cell anemia, Lek says. It may sound contradictory, but rare diseases are more common than people realize because those afflicted often spend most of their time inside, he says.

“I think the saying is, out of sight, out of mind,” Lek says.

Rare diseases are caused by genetic variants, according to Lek. Great strides have been made in recent years identifying genes that cause rare diseases, but even today there are substantial gaps of knowledge. The goal of Lek’s lab is to make more connections, enabling patients to benefit from the burgeoning field of genetic therapy, he said. The goal is to eventually apply fixes into an individual’s genetic code: the ultimate in personalized medicine.

“We’re in the era of precision medicine, and I think it will come first for rare diseases,” Lek says. “Because we have the ability to manipulate the human genome, it could be a game changer.”

Even as rare disease research takes off, challenges remain. By definition, the market for rare disease treatments is small, limiting their appeal to pharmaceutical developers. For some rare diseases, clinical trials alone would include nearly every person with the disorder, eliminating any potential market.

“At the end of the day, the challenge is to bring these technologies online in a way that helps people who fall outside profit considerations,” says Lek.

Although initial gene therapy trials for muscular dystrophy show great promise, Lek may have to wait for an effective therapy tailored to him, specifically. With ongoing research at Yale and places like it, that may come to pass in his lifetime.