The Neurogenetics Group is interested in learning more about major genetic neurological disorders as a way of understanding the neurobiology of human brain function.
Identifying the genes and their mutations implicated in major neurological disorders—like intellectual disability, autism, epilepsy and cerebral palsy—represents a challenge of significant medical importance. However, it is by understanding the molecular mechanisms of these genetic mutations that the role of specific genes and proteins in normal brain function can be discovered.
Our group has made great leaps in this field. We identified the first gene for non-syndromic intellectual disability (ID): the most frequently mutated gene in mild to borderline ID. We have also discovered, or contributed to the discovery of, more than 100 different genes in new and unexpected biological pathways essential for normal brain function—such as non-sense mediated mRNA decay.
The Neurogenetics Group is also interested in non-coding DNA regulatory mutations causing ID. We discovered a gene mutation in a large Australian family with non-syndromic ID that had eluded scientists and clinicians for over 40 years. ID was initially regarded as a slightly separate field to epilepsy genetics. Our gene discoveries in ID point to an increasing overlap between ID and epilepsy, which may explain their frequent co-occurrence.
Our key research strengths are:
- genomics and bioinformatics
- molecular mechanisms of intellectual disability
- molecular neuroscience
- animal models.
Our research is complemented by many national, international clinical and basic science collaborators.
Lead researcher: Professor Jozef Gecz
Neurobiology of epilepsy
- Dr Sarah Heron
- Dr Duyen Pham
- Renee Carroll
- Alison Gardner
- Renee Schulz
- Marie Shaw
- Thuong Ha - PhD candidate
- Claire Homan - PhD candidate
- Kristy Kolc - PhD candidate
Intellectual disability – cellular neurobiology
- Deepti Domingo - PhD candidate
- Debrah Renders - PhD candidate
Cerebral palsy research (co-lead with Emeritus Professor Alastair MacLennan)
- Mahalia Frank
- Kelly Harper
- Hannah Macdonald
Childhood disability prevention
- Professor Eichler - Autism Spectrum Intellectual Disability (ASID) Consortium, Washington University, Seattle, United States of America
- Professor Geschwind - University of California, Los Angeles, United States of America
- Professor Kalscheuer - Max-Planck Institute for Molecular Genetics, Berlin, Germany Euro MRX Consortium: Professor de Vries, Nijmegen Genetics, the Netherlands
- Dr Passafaro - Telethon Institute, Milano, Italy
- IGOLD (International Genetics of Learning Disability) - Professor Schwartz, Greenwood Genetics Centre, South Carolina, USA; Dr Raymond, Cambridge, United Kingdom
- Professor Wilkinson - University of California, San Diego, United States of America
We offer exciting opportunities for researchers at the honours, masters and PhD levels. Our research degrees are open to students from a broad range of backgrounds, and range from basic sciences to clinical research. If you are interested in human health, consider furthering your research career with us.