Gene therapy pioneer Jude Samulski, PhD, professor of pharmacology at the 黑料网, is featured this NPR story about a 30-year research journey from idea to treatment reality for kids with muscular dystrophy.
of a fatal genetic disease, a tenacious scientist and a family that never lost hope.
听was 4 years old when he was diagnosed with Duchenne muscular dystrophy, a genetic disease that causes muscles to waste away.
Conner鈥檚 mother, Jessica Curran, remembers some advice she got from the doctor who made that 2015 diagnosis: 鈥淭ake your son home, love him, take him on trips while he鈥檚 walking, give him a good life and enjoy him because there are really not many options right now.鈥�
Five years later, Conner is not just walking, but running faster than ever, thanks to an experimental gene therapy that took more than 30 years to develop.
Conner was the first child to receive the treatment 鈥� a single infusion designed to fix the genetic mutation that was gradually causing his muscles cells to die. The treatment can鈥檛 bring back the cells he鈥檚 lost (he remains smaller and weaker than his twin brother, Kyle), but it has allowed the muscle cells he still has to function better.
Since Conner鈥檚 treatment, eight other boys with Duchenne muscular dystrophy have received two different doses of the gene therapy.听听results on six of them, tested a year after treatment, showed they, too, had improved strength and endurance at an age when boys with Duchenne usually become weaker.
The success suggests that gene therapy could be poised to change the lives of thousands of children 鈥� usually boys 鈥� who have Duchenne. But scientists still want to see the results of a much larger trial of the therapy, which is likely to begin later this year.
Conner鈥檚 parents, Jessica and Christopher Curran, never accepted the doctor鈥檚 grim prognosis. But by the time their son got to first grade, he was falling far behind his fraternal twin,听Kyle, and struggling to get around the house.
鈥淗e pulled himself up the stairs,鈥� Jessica says. 鈥淗e would make it past four stairs and he couldn鈥檛 do the rest. He could not last a full day in school. The teacher would say, 鈥榃e let him take a little nap in the classroom,鈥� and I鈥檓 thinking, what?鈥�
The Currans knew that scientists were working on a treatment. About a year after his diagnosis, they鈥檇 begun to hear the words 鈥済ene therapy.鈥�
It seemed like the answer. After all, children with Duchenne lack a functional version of the听, which helps muscles stay healthy. So why not fix it?
鈥淭he concept is very simple. 鈥淵ou鈥檙e missing a gene so you [put it] back,鈥� says听Jude Samulski, a gene therapy pioneer, founder of the听黑料网 Gene Therapy Center, and professor of pharmacology at the University of North Carolina School of Medicine in Chapel Hill.
Samulski devoted more than 30 years to making that simple concept work.
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