CHARLESTON, S.C. — As autism diagnoses continue to rise nationwide, researchers at the Medical University of South Carolina believe they may be getting closer to a treatment designed to target certain forms of the disorder at its genetic source.
According to the Centers for Disease Control and Prevention, autism diagnoses increased from 1 in 150 children in 2000 to 1 in 31 children in 2022. Experts said the rise is largely linked to better screening and a broader definition of autism spectrum disorder.
While autism can be influenced by both environmental and genetic factors, researchers said genetics may account for up to 80% of a person’s likelihood of developing the disorder.
Dr. Christopher Cowan said that understanding how genes contribute to autism has become central to the team’s research.
“We’ve known for a long time that autism, like most conditions, is influenced by both our genes and the environment,” Cowan said. “One thing that we decided we could get a handle on is the genes. We can actually sequence and understand our genetic differences.”
At MUSC, Cowan and his team are studying some of the most severe forms of autism tied to a single gene known as MEF2C.
Researchers said when the gene does not function properly, it can lead to autism, speech delays, seizures and intellectual disabilities.
After more than a decade of research, Cowan’s team believes it may have found a way to intervene by restoring levels of missing proteins connected to the disorder through a gene-based treatment.
Cowan said that breakthrough came after years of studying how targeted genetic interventions could impact severe cases of autism.
“We realized a number of years ago that if we could harness the power of our understanding of the genetics, we could possibly intervene in particular cases where individual’s quality of life is severely impacted by their autism,” Cowan said.
Researchers said they are now in an important testing phase as they work to determine whether the approach can move closer to human trials.
“We’re at the phase now where we’re showing that this approach can work in what we call pre-clinical models,” he said. “The next phases, once we demonstrate that this is working well, is to begin to move toward potential FDA approval and first in human studies.”
He also emphasized the potential flexibility of the treatment approach, which could allow researchers to adjust dosing based on patient needs.
“This approach that we’re taking is particularly exciting because it has the potential, very much like taking a pill, to be able to adjust the dosage to try to maximize the benefit to the individual,” he said.
Cowan also pointed to the urgency he has seen among families affected by the condition.
“In interacting with these families, the desperate urgency for help was very clear,” he said. “For the entire team in my lab and for our company that’s commercial moving this toward commercial application, this has become a real driving force for us. It’s a highly motivating thing to try to help these families.”
The treatment is aimed at children with profound autism, where symptoms significantly affect daily life for patients and caregivers. Researchers said many patients are nonverbal or minimally verbal and may struggle with seizures or motor coordination issues requiring constant supervision and care.
Cowan said more than 400 families worldwide are living with the rare condition his team is targeting.
He explained that the goal of the research is to go beyond symptom management and directly address the underlying biological cause.
“Our approach is rather than just basic symptom management for some of these individuals, we’re actually attacking the core of the problem,” Cowan said. “What this could look like is a restoration of full function or at least a partial restoration of function, which could be a huge advantage to these individuals.”
Researchers said the treatment would involve administering a small biological molecule over several months. If successful, they believe the work could create a roadmap for treating other single-gene forms of autism.
“Rare diseases, individually, are rare, but as a group, they affect more than 30 million Americans,” Cowan said. “More than half of those are children.”
The team hopes to begin clinical trials within the next two years pending additional safety testing and approval from the U.S. Food and Drug Administration.
Researchers said nearly 40 patients have already enrolled and are prepared to participate once trials begin.
For families searching for answers, researchers said the work could represent a major shift in autism research by focusing not only on symptom management, but on treating the condition at its source.
Copyright 2026 WRDW/WAGT. All rights reserved.
