University of Florida
Patients are fighting back against the lack of attention that’s given to their diseases, a leading expert in genetic and rare diseases says.
“I think we’re starting to see the rare-disease community mobilizing themselves a little bit to emphasize the unmet need in the patient population,” says Barry Byrne, who is the director of Powell Gene Therapy Center at University of Florida and a recent appointee to a Food and Drug Administration panel on cellular, tissue and gene therapies. Up to 3 million people in the United States have a rare disease, he says, but only a few thousand have any one type. “So there’s really not always a unified voice in addressing what concerns they think there are.”
Byrne’s research investigates the possibilities of gene therapy, which is the process of injecting people who have a genetic disease with a copy of the gene that they need to cure the disease. Byrne says the therapies show potential and have demonstrated efficacy in curing eye diseases—including a study where patients showed improvement even when they were given a small dose of the therapy.
No gene therapies are approved in the United States. Byrne frames gene therapy as a last line of defense for people who have diseases that can’t be treated any other way. He hopes that studies of the treatment’s efficacy will come quickly.
“The overall goal of these therapies is to treat conditions for which we have no other successful treatments,” he says. “The effect of a very specific treatment, like gene therapy, is expected to be substantial in a well-designed study.”