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Charles Thornton: Award for Achievement

Tuesday, June 23, 2026

Charles Thornton, MD, is an internationally recognized expert on the mechanisms and treatment of myotonic dystrophy, one of the most common forms of muscular dystrophy. His scientific breakthroughs about repeat expansion diseases helped uncover fundamental disease processes and paved the way for novel treatments now in clinical trials. As the Saunders Family Distinguished Professor in Neuromuscular Research at the University of Rochester Medicine Department of Neurology, Thornton is fostering the next generation of physician-scientists in the field as he continues to work toward better treatments.

Thornton’s interest in myotonic dystrophy began in the clinic. His career pivoted toward research after scientists discovered the disease’s genetic cause. Unlike most other genetic diseases, the abnormality that caused myotonic dystrophy was not found to be in the part of the gene that controls protein synthesis.

“That was the mystery,” Thornton says. “We knew the genetic basis, but there still was no clue what was going wrong or what to do for treatment.”

Many researchers moved on to other, more tenable projects — but Thornton persisted. Thus began a more than 30-year inquiry into myotonic dystrophy and the mechanisms underlying it and other repeat expansion diseases.  

Repeat expansion diseases are caused by abnormalities in the sequencing of genetic material, creating areas where the “letters” of genetic code in a section of DNA repeat more than they should. This excess repetition can disrupt a gene’s function and cause disease.

“There was a lot to be curious about,” he says. “We began to suspect that the problem was caused by trouble with the RNA that comes from the gene.”

That hypothesis proved true. The discovery was the first example in human genetics of RNA toxicity, where a malfunctioning messenger RNA directly caused disease. This basic science discovery unlocked later understandings made by other researchers of other diseases caused by RNA toxicity.

Thornton was the first to describe myotonic dystrophy type 2, which was later shown to have expanded repeats at a different location in the genome. He developed the first animal model that replicated the signs of myotonic dystrophy, laying essential groundwork for therapeutic development.

Thornton has also played a central role in organizing the research community around these diseases. He helped to establish the Myotonic Dystrophy Clinical Research Network and the National Registry for Myotonic Dystrophy, and he served as director of the University of Rochester’s National Institutes of Health-supported Wellstone Muscular Dystrophy Specialized Research Center, which has been in uninterrupted operation for more than two decades.

“What I take the most satisfaction in is seeing something from start to finish,” he says. “The super fun thing now is to talk to people who are getting brand new drugs — to know something about their hopes and fears, and then, after receiving treatment, to hear about the changes they are noticing. We’ve had some people say they’re thinking of returning to work.”

As a colleague and mentor, Thornton is praised for matching intellectual rigor with patience and humility. But for Thornton, the patient has remained at the heart of his work.

“The most important thing was always to do the next experiment that moves us closer to the goal of getting effective treatments,” he says.