How the Groundbreaking Discovery of the Gene Underlying Duchenne Muscular Dystrophy Changed the Field

Contemporary Clinic® interviewed Donald Wood, PhD, the recently elected president and CEO of the Muscular Dystrophy Association (MDA), on muscular dystrophy research and care during the coronavirus disease 2019 (COVID-19) pandemic and beyond.

Alana Hippensteele: Would you mind discussing further the Task Force on Genetics, and the importance and impact of its findings on understanding muscular dystrophy?

Donald Wood: Well to your audience, there was a time probably before many of you were born when we didn't know how to do research into human genetics because we couldn't actually study human DNA. The first time we were allowed to study human DNA was back in the 70s—that's last century folks. Then in the 80s, the Muscular Dystrophy Association created the Task Force on Genetics, whose specific aim was to identify the genetic cause of muscular dystrophy.

No one had ever identified a gene underlying a human disease without knowing what that gene did. When we started looking for the gene, we didn't know if the gene was expressed in muscle—even though muscle was hurt, the gene could have been expressed in nerve. There were even some theories that the gene somehow disoriented capillarity, and so it could have been in that area. We didn't know what area it was in.

So, the Task Force on Genetics set up a program which I oversaw, and we had a strategy for going after the genes underlying Duchenne muscular dystrophy. There are a lot more diseases, but we knew that Duchenne muscular dystrophy was an x-linked disorder, so it was on the x chromosome, and anyway, without going through all the details, that was our focus.

We held a conference in Cold Spring Harbor in 1983 to develop the overall strategies. In 1986, I was on a stage with Jerry Lewis and Dr. Lou Kunkel's lab that had discovered the gene underlying Duchenne muscular dystrophy, the very first gene underlying a human disease ever discovered without knowledge of the gene protein. The gene protein came next, so we have in the 70-year history of the Muscular Dystrophy Association created history in terms of human genetic diseases, and it's been my great, good fortune to have been involved every step of the way.