Transforming neurodevelopmental disorders using multi scale imaging and genomics

Children with epilepsy and autism often share the same underlying brain abnormalities, but doctors currently have no way to link a specific genetic mutation to a visible brain scan in an individual patient. This matters because epilepsy and autism spectrum disorder (ASD) frequently occur together, and both are linked to genetic faults and developmental brain lesions. Yet existing tools cannot bridge the gap between a patient’s genes, their brain structure, and their symptoms. Without that bridge, treatments remain generic rather than personalised. The researchers will build computational tools that identify individual-level imaging abnormalities in neurodevelopmental disorders. They will then create a multiscale framework—combining genetics, cellular biology, and brain imaging—to reveal which biological pathways are shared between epilepsy and ASD, and which are distinct. Finally, they will test these tools on rare genetic cohorts where both conditions are present. If successful, this work could transform how clinicians diagnose and treat these conditions. Instead of treating epilepsy and autism as separate disorders, doctors might one day tailor therapies to the specific neurobiological pathway driving a child’s symptoms—moving from trial-and-error prescribing to precision medicine guided by a patient’s own genetic and imaging profile.