This fall marks the 22nd anniversary of the finding that a lack of the muscle protein dystrophin, stemming from flaws in the dystrophin gene, is the root cause of Duchenne muscular dystrophy. (See “MDA Matters.”)
On March 8, at Children’s National Medical Center in Washington, researchers, physicians, families and MDA staff members gathered to commemorate this momentous development.
Among those present to be honored were Louis Kunkel, who led the original team that identified the gene at Harvard University, where he’s still a leading investigator, and Eric Hoffman, then working with Kunkel and now a renowned molecular biologist at Children’s National.
As I look through this issue of Quest, I’m struck by the advances that have occurred in the last two decades.
In "Research Updates," you’ll read about a large-scale trial of a drug that changes the way DMD-affected muscle cells interpret genetic instructions and allows them to make dystrophin.
You’ll also learn about new trials of a drug designed to increase production of SMN, the protein that’s missing in spinal muscular atrophy, and testing of a medication that may improve cellular energy production in Friedreich’s ataxia.
These strategies could not have been imagined 20 years ago.
In the 1980s, the parents of Kathy Wechsler (“Moving Out: Operation Get a Life”) probably didn’t think much about their FA-affected daughter’s adult years. But now she’s 29 and a staff writer at MDA, here to chronicle the trials and tribulations of living on her own.
Nicholas Johnson, 44, a member of MDA’s National Task Force on Public Awareness, says that there was “absolutely no hope” of an effective treatment when he learned he had Friedreich’s ataxia back in the 1980s.
Today, Johnson is married, works as a mechanical engineer and the future looks much brighter. He notes that it was the MDA-supported identification of the flawed gene and missing protein in FA in 1996 that became the foundation of today’s FA drug development research.
Innovations like assisted ventilation, cardiac pacemakers and spine-straightening surgery already have lengthened lives, and the molecular biology advances that began only two decades ago have made fulfilling, independent lives imaginable for young people with neuromuscular diseases today.
I’m honored to be part of the organization that made these changes possible.
Gerald C. Weinberg
President & CEO