St. Jude’s Children's Research Hospital has long been known for leading the way in the treatment and research of children’s cancer. However, the leaders at the institution want to do more to take on other devasting pediatric diseases.

That’s why they reached out to Heather Mefford, who earned a bachelor’s degree in chemical engineering from Washington University in St. Louis’ School of Engineering in 1994. After earning her MD/PhD at the University of Washington, Mefford had spent 13 years at the University of Washington, where she was associate professor of pediatrics and a geneticist as well as an attending physician at Seattle Children’s Hospital.

Mefford’s lab has spent the past 10 years trying to discover the genetic causes of pediatric epilepsy. While not all epilepsy disorders are caused by genetic mutations, there are some that become apparent early in life and can cause severe developmental and learning delays.

“We've identified dozens of genes where if you have certain changes, you’ll have pediatric epilepsy,” Mefford said. “That's important for kids who are affected and their families to be able to say we understand the cause and we're able to use that information to help guide treatment.”

In January of this year, Mefford packed up her lab and moved cross-country to join the faculty at St. Jude to help start up its new Center for Pediatric Neurological Disease Research. That center, along with the new Center for Experimental Neurotherapeutics, is recruiting faculty to perform research and lead clinical trials. While the move did briefly interrupt her research, as well as require her to hire new research staff, Mefford said she was excited about the opportunity to work with the new center.

“What is exciting and attractive to me is the opportunity to help build this program from the ground up and think about ways to improve the lives of kids with these devastating diseases,” Mefford said.

A physician-scientist, Mefford will have the opportunity to not only watch her research develop in her lab, but also see how it impacts real patients at St. Jude and the surrounding hospitals.

“It still feels idealistic to say I want to do research to help the patients with the diseases that I study and vice versa, but that's exactly what I'm doing,” Mefford said. “Genetics is a field that has really grown rapidly, and I was able to be a part of that excitement and take advantage of new technologies and new discoveries that really helped accelerate the success of our research.”

As the program grows, Mefford says she’s looking forward to seeing what new direction her research takes her.

“One of the nice things about St. Jude is that they have a lot of resources and core facilities that help you do your research more efficiently,” Mefford said. “In addition to being able to continue what we were working on before, we're hoping to expand our research and do more studies that are related to potential treatments.”

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