People get into science for all sorts of different reasons. For Courtney Young, the reason was easy; she has a cousin with Duchenne muscular dystrophy.

Now her work as part of a team at UCLA has led to a new approach that could eventually help many of those suffering from Duchenne, the most common fatal childhood genetic disease.

The disease, which usually affects boys, leads to progressive muscle weakness, which means children may lose their ability to walk by age 12 and eventually results in breathing difficulties and heart disease.

Duchenne is caused by a defective gene, which leads to very low levels of a protein called dystrophin – an important element in building strong, healthy muscles. This defect or mutation can occur in many parts of the gene, but in 60 percent of cases it happens in one particular hot spot of DNA. That’s the area that the UCLA team focused on, helped in part by a grant from CIRM.

Skin in the game

First, they obtained skin cells from people with Duchenne muscular dystrophy and turned those into iPS cells. Those cells can become any other cell in the body and, just as importantly for this research, still retain the genetic code from the person they came from. In this case, it meant they still had the genetic defect that led to Duchenne muscular dystrophy.

Then the researchers used a gene-editing tool called CRISPR (we’ve written about this a lot in the past; you can find a couple of those articles here and here and here) to remove the genetic mutations that cause Duchenne. They then turned those iPS cells into skeletal muscle cells and transplanted them into mice that had the genetic mutation that meant they couldn’t produce dystrophin.

To their delight, they found that the transplanted cells produced dystrophin in the mice.

Breaking new ground

April Pyle, a co-senior author of the study, which appears in the journal Cell Stem Cell,  said, in a news release, this was the first study to use human iPS cells to correct the problem in muscle tissue caused by Duchenne:

“This work demonstrates the feasibility of using a single gene editing platform, plus the regenerative power of stem cells to correct genetic mutations and restore dystrophin production for 60 percent of Duchenne patients.”

The researchers say this is an important step toward developing a new treatment for Duchenne muscular dystrophy, but caution that many years of work remain before this approach is ready to test in people.

For Courtney Young, advancing the science is not just professionally gratifying; it’s also personally satisfying:

“I already knew I was interested in science, so after my cousin’s diagnosis, I decided to dedicate my career to finding a cure for Duchenne. It makes everything a lot more meaningful, knowing that I’m doing something to help all the boys who will come after my cousin. I feel like I’m contributing and I’m excited because the field of Duchenne research is advancing in a really positive direction.”