A community approach to accelerate the discovery of the molecular basis of neurodevelopmental disorders

The molecular causes of the majority of inherited neurodevelopmental disorders remain poorly understood. The cause of such disorders in rural Pakistan typically relates to founder mutations that have accumulated due to historical ancestral population bottlenecks, followed by population expansion. This provides an opportunity to study phenotypical, genetic and functional studies to discover the molecular causes of autosomal recessive, which will benefit medical science and help with disease diagnosis globally.

This study will cement new collaborative relationships and develop infrastructure in four Pakistani research centres enabling invaluable new opportunities to discover more about neurodevelopmental disease. We will unravel biomolecular developmental processes for future exploration using stem cell and animal models. The collaboration will also provide opportunities to improve local knowledge of the spectrum and causes of inherited neurodevelopmental disease, greatly facilitating development of diagnostic services in Pakistan.

These collaborative relationships will lay foundations for long-term future molecular studies to enhance scientific knowledge and define new therapeutic avenues for these disorders.