In The Politics of Autism, I discuss various ideas about what causes the condition. Genetics plays an important role. “I’m told that there was a 20-to-1 research ratio for genetic causes over the past 20 years,” HHS Secretary Robert F. Kennedy Jr. recently said. “I believe that was because they did not want to look at the environmental exposure because they were scared. So I don’t think we should be funding that genetic work anymore.”
If Kennedy were serious about moving autism science forward, he would be talking more about genetics, not dismissing them. That’s because genetics is where all of the exciting drug development is currently happening.
A biotech firm called Jaguar Gene Therapy has received FDA approval to conduct the first clinical trial of a gene therapy for autism, focused on SHANK3. The treatment, developed in part by one of Buxbaum’s colleagues, is a one-time injection that would replace a mutated or missing SHANK3 gene with a functional one. The hope is that the therapy would improve speech and other symptoms among people with high-needs autism who have also been diagnosed with a rare chromosomal deletion disorder called Phelan-McDermid syndrome; many people with this condition also have Autism spectrum disorder.
The trial will begin this year with a few infant patients, 2 years old and younger, who have been diagnosed with autism. Jaguar eventually aims to test the therapy on adults over 18 with autism in the future. Patients are supposed to start enrolling this year in the trial, which is focused on first establishing the treatment’s safety; if it proves safe, another round of trials would start to rigorously evaluate its effectiveness.
“This is the stuff that three or four years ago sounded like science fiction,” Singer said. “The conversation has really changed from Is this possible? to What are the best methods to do it? And that’s based on genetics.”
Researchers at Mount Sinai have also experimented with delivering lithium to patients and seeing if it improves their SHANK3 function. Other gene therapies targeting other genes are in earlier stages of development. Some investigators are experimenting with CRISPR technology, the revolutionary new platform for gene editing, to target the problematic genes that correspond to the onset of autism.
But these scientists fear that their work could be slowed by Kennedy’s insistence on hunting for environmental toxins, if federal dollars are instead shifted into his new project. They are already trying to subsist amid deep budget cuts across the many funding streams that support the institutions where they work.
