The Brink: Born with Muscular Dystrophy, Justin Moy Now Seeks to Defeat It
Excerpt from The Brink | By: Molly Callahan| February 24, 2025 | Photo: Jackie Ricciardi
As disorders go, muscular dystrophy is not a kind one. A genetic disease that causes muscles to weaken over time, it precipitates a gradual decline that makes it increasingly difficult to move, can cause the spine to curve, and eventually leads to serious complications in the hearts and lungs of its patients. There’s no cure, and scientists are still struggling to understand its exact mechanisms.
How does it travel through muscle cells? What are the specific gene mutations that cause its various forms? Why does it affect some patients from birth and others later in life?
Justin Moy, a third-year bioinformatics PhD candidate at Boston University, is one of the scientists trying to crack the disease’s genetic code. He hopes that by analyzing existing cellular data, he can help create a pathway for better treatments—and, potentially, a cure. But, for him, this isn’t some abstract scientific exercise. Moy (CDS’25,’27) was born with the specific type of muscular dystrophy—known as LAMA2-related muscular dystrophy—that he’s now studying.
“My life’s goal is to cure my disease, and that’s really what drives me every day,” Moy says.
In his quest for a cure, Moy is taking an unexpected route: he’s joined the lab of Pawel Przytycki, a BU Faculty of Computing & Data Sciences assistant professor of computing and data sciences.
“I didn’t know anything about LAMA2 muscular dystrophy—or really muscular dystrophy at all—before Justin came and joined the lab,” says Przytycki. “I was a data person.”
Specifically, he was a data person who’d been studying large-scale genomics data, including how cardiomyocytes (the cells that make up the heart muscle) communicate with one another. Przytycki had developed computational methods to create a clearer picture of which cells carry which information, and how that information travels. Understanding this cellular game of telephone could eventually help us understand how to act when the information gets garbled. Bad information at the cellular level can lead to all sorts of disorders throughout the body, including heart disease—and, Moy argued, muscular dystrophy.
Moy saw a link between Przytycki’s research into cell communication and what scientists know about how muscular dystrophy progresses through the body, one cell at a time. The methods already in use in the lab—including incredibly complex analytical techniques such as bulk RNA sequencing, single-cell transcriptomics, and spatially resolved transcriptomics—are all ways of understanding how cells carry out the instructions coded by our DNA to build and multiply. For researchers such as Moy, they can also be used to understand where those instructions go awry.