Five years ago, pediatric neurologist Joseph Gleeson reached out to a doctor in Libya, seeking assistance with some scientific sleuthing. Gleeson’s research team at the University of California, San Diego, was amassing a genetic database of children in the Middle East who have inherited brain conditions. The researchers had a strong hunch that they had uncovered a genetic culprit that could instigate not only autism, but also epilepsy and intellectual disability, conditions that frequently occur alongside autism. In this database, they had just come across a large Libyan family whose members share this rare DNA defect.
Gleeson had long thought that the puzzling overlap between autism and epilepsy must be important. Roughly 20 to 30 percent of people who have autism also have seizures, and as much as 20 percent of those with epilepsy also have autism. One possible explanation for this overlap is that the same underlying phenomenon gives rise to both conditions. Gleeson reasoned that studying children within this intersection of troubles could offer opportunities for finding some of the faulty genes—and, perhaps, for developing treatments.
His search led him to the rare mutations, which were in a gene called BCKDK. Before learning of the Libyan family, Gleeson's crew had known of only two other families in the world with this DNA glitch, one of which had been identified by competing scientists at Yale University. The clan in Libya included two affected boys who were patients of neurologist Majdi Kara at Tripoli Children’s Hospital. In a phone call with the physician, Gleeson explained that the mutations could be fueling metabolic problems, which should show up in the boys’ blood. Could Kara draw blood from the brothers and send it to the United States?