Medical Genetics

This research group has a focus on selected unusual clinical cases that have the potential to provide powerful insights into much more common health problems. Currently, the group is focused on Rett syndrome (a rare severe neurodevelopmental condition affecting mostly girls), which appears to be pointing towards several useful avenues of research for autism, which is a very much more common condition.

Autism and Rett syndrome are both characterised by onset of symptoms many months after birth, following a period of apparently normal growth and development. Both conditions seriously disrupt social and language development and are often accompanied by repetitive, non-functional body movements. Loss of developmental skills may occur in each, yet children with either condition may also improve over time. Matching the resemblances between these disorders are some similarities in their underlying biology, which is the focus of our research activities. We anticipate that our findings will lead to an improved understanding of the disturbed biology in autism and Rett syndrome, which will strengthen the foundations necessary to develop and evaluate novel interventions for these currently incurable disorders.

Senior Research Staff

Professor David Ravine Head, Medical Genetics Research: Rett syndrome; autism; inherited kidney disease

Dr Alka Saxena NHMRC Peter Doherty Fellow Research: Cell biology; Rett syndrome; Epigenetics