Molecular therapies in Rett syndrome

Abnormalities in brain development, once thought to be irreversible in adults, are assumed to underlie a range of autism, intellectual disability and epilepsy disorders. There is growing evidence that reversing the underlying molecular deficits can result in substantial improvements in function and this knowledge is in turn changing the way we view and envisage treating such disorders in the future.

The aim my research is to understand the tractability of neurodevelopmental disorders (NDDs) to therapeutic intervention. This includes gaining an understanding of those aspects of NDDs that genuinely result from aberrant early brain development, to features that result from ongoing dysfunction within the mature nervous system. This is important not only for a fundamental understanding of the pathophysiology but also in terms of windows of opportunity for treatment.

The seminar will mainly focus mainly on Rett syndrome as an exemplar to efforts to develop molecular therapies in targeting the brain disorders at their root-cause.