CFH2a Priming - Characterising the role of a novel intellectual disability gene, TLK2, in neuronal development

Neurological disorders such as intellectual disability and autism are commonly caused by inherited or spontaneous genetic mutations that alter the normal development of the brain. Understanding how these mutations affect brain development will aid the design of therapies to treat such debilitating diseases. A recent genetic screen identified mutations in an enzyme called TLK2 in several patients with intellectual disability, autism and schizophrenia. The mutations are predicted to inhibit the activity of the TLK2 enzyme. To date there is no information on the function of TLK2 in the brain. This project aims to i) establish where and when TLK2 is expressed in the brain; ii) determine the mode of action of TLK2 in neurons and iii) explore how human TLK2 mutations affect neuronal function. Together, these data will provide a foundation for mechanistic studies into how TLK2 mutations cause intellectual disability.