Project
Dr. Fabian Kaiser, paediatrician at Erasmus MC, is conducting groundbreaking research on autism. The disorder has been linked to a disturbance in the PAX5 gene, a discovery that could have a major impact on the lives of patients. The research is made possible in part by the Muller Foundation.
An estimated one in a hundred people has autism spectrum disorder (ASD). Their brain reacts differently to information and stimuli than most people’s. “ASD is an umbrella term for developmental disorders of the brain, often with similar symptoms”, says dr. Fabian Kaiser, paediatrician at the Erasmus MC and currently researching autism. “People with ASD often experience challenges in social interactions and frequently exhibit repetitive behaviour. But the spectrum is wide: the symptoms can be very mild, preventing an ASD diagnosis.”
Kaiser: “Genetic deficiencies are inherited, but there are other factors at play. A serious infection during pregnancy, for example, might lead to a developmental disorder in the unborn child. Thanks to new technology, we have discovered that a mutation in the PAX5-gen can cause other cells to become overactive, which might possibly lead to ASD.”
“Of course, it’s too early to predict how this may affect adults with ASD”, Kaiser continues. “We first want to understand the relationship between PAX5 mutations and ASD. Why do we lose nerve tissue? How do we deal with excessive brain activity? Based on our research, we will examine whether there’s available medicines that might also help with PAX5 deficiency.”
