From the Lab to the Rett Community
As a principal investigator, Dr. Ron Emeson leads research on RNA editing, which aims to modify genetic messages inside cells before proteins are produced.
“Most of my career at Vanderbilt University has been working on this process called RNA editing,” he explains. “And I was just working on editing for editing’s sake. But, particularly with the success of the COVID vaccine and other RNA-based therapies, I thought that maybe I could use all of the knowledge that I had accumulated on RNA editing to use it in a more translational way, to try and develop a therapeutic strategy for genetic disorders.”
His path to Rett syndrome began through conversations with colleagues, including internationally recognized Rett expert Dr. Jeffrey Neul, whose lab is just across the hall from his.
“Jeff Neul and other faculty members have been working on Rett syndrome for a very long time,” Dr. Emeson recalls. “So just kind of from conversations in the hall, we met and they said there was a need to develop strategies. They told me about Rett syndrome. I embarrassingly, I didn’t really know anything about it prior to that. And so that was sort of how it all began.”
What started as casual hallway chats has turned into a dedicated mission to bring new ideas, and new hope, to the Rett community.
Aiming for the Root Cause
Dr. Emeson’s team is focusing on the most common MECP2 mutations, which appear in more than half of people with Rett syndrome.
“Of all the cases of Rett syndrome that have been identified, about 60% of them are due to eight specific mutations within the gene encoding MECP2,” he says. “And four of these mutations are what are called nonsense mutations.”
A nonsense mutation is a change in DNA that creates a premature “stop” signal in the genetic message. When this happens, the process of making MECP2 protein halts too soon—leaving cells without the full-length, functional protein they need.
“So using RNA editing, we can’t change that mutation back to what it was before, but we can change the stop codon to another amino acid called tryptophan.”
That small change, he explains, could make a big difference.
“We made genetically modified mice… they have a phenotype which looks like other mouse models of Rett syndrome,” he explains. “And then we made mice that instead of the stop codon, they had a tryptophan at that position… and those mice look pretty much like normal mice.”
These early results are promising. If RNA editing can restore MECP2 function safely, it could one day offer a treatment that targets Rett at its source—not just its symptoms.
Seeing the Community Behind the Science
When Dr. Emeson attended his first IRSF Scientific Meeting, he heard parents share their experiences raising children with Rett syndrome.
“When I went to my first IRSF meeting that was actually in Nashville two years ago, it was a meeting that had families that were affected by Rett syndrome, and particularly there was a group where there were three mothers that went up there and talked about their experiences with raising daughters with Rett syndrome,” he remembers. “And that was so compelling to me. You can work on something in the abstract… but it’s a lot different when you see the people that you could actually affect positive changes in their lives.”
For Dr. Emeson, those stories put his work into powerful perspective. They reminded him that each discovery in the lab represents a potential step toward better lives for families.
How IRSF Support Fuels Discovery
Dr. Emeson shares that the International Rett Syndrome Foundation played a vital role in helping his work take shape.
“IRSF has been critical in my ability to do the work that we’re doing,” he says. “I had no history in Rett syndrome. But I wrote a grant to IRSF and I guess they believed in me enough to give me the money that formed the basis for everything that we’ve done since then. And without their belief in me, without their support, we couldn’t have done any of it.”
That initial grant gave his lab the freedom to explore a bold idea, and build the early data needed to secure additional funding and expand the research.
IRSF is proud to support scientists like Dr. Emeson who bring fresh perspectives and innovative thinking to the Rett field. Investing in early-stage, high-impact research helps move discoveries from the lab bench closer to clinical trials and, ultimately, to families.
“IRSF has been critical in my ability to do the work…without their belief in me, without their support, we couldn’t have done any of it.“
– Dr. Emeson
Hope for What’s Ahead
“When you go to a scientific meeting, you see all the different people working on all different aspects of Rett syndrome, and they’re coming at it from every possible direction,” Dr. Emeson says. “Nobody knows which one is going to work… but as many things that we can bring to the clinic as possible to help kids with Rett syndrome, the better that would be.”
He also wants families to know how deeply researchers care.
“I think that families should be hopeful. Families that have kids afflicted by this disorder, they should know that there are a lot of scientists that are working really hard to try and figure out what the best way, the safest way, is to treat their children… We really care. It’s really important.”
Teaching, Inspiring, and Empowering
Beyond the lab, Dr. Emeson shares his expertise as an educator through Rett Forward: A Clinical Trial Masterclass, IRSF’s educational platform that helps families understand the science behind clinical trials and emerging therapies.
Rett Forward brings together leading scientists and clinicians, including Dr. Emeson, to explain complex topics in clear, engaging ways. At the International Rett Syndrome Foundation, we believe that informed families are empowered families. If you’re curious about the science shaping the future of Rett syndrome, and want to hear directly from experts like Dr. Emeson, enroll in Rett Forward today to learn more about RNA editing and other emerging therapies.
We are proud to support Dr. Emeson’s groundbreaking research and grateful for his commitment to helping families understand the science behind hope. His innovative work, both in the lab and through education, reflects the shared mission we all hold: to accelerate treatments and create a brighter future for everyone living with Rett syndrome.
You can make a direct impact by supporting critical Rett syndrome research and the researchers at the forefront of the next breakthroughs. Donate to our Research to Reality Fund to help drive progress to advance treatments and give hope to every individual with Rett syndrome.