Neurogenetic Research (BLC)

Research area:  Bruce Lefroy Centre

Gene discovery and functional characterisation of proteins contributing to neurodevelopmental and neurogenetic disorders including autism, brain malformations and ataxia.

Our group was established in 2004 to develop laboratory-based molecular neuroscience research within the Murdoch Children's Research Institute and enhance the established clinical and public health research activities of the Bruce Lefroy Centre (BLC).

Our team uses powerful modern genomic technologies, including high-density SNP arrays and Next Generation short-read and long-read sequencing to identify changes in genes that cause neurogenetic and neurodevelopmental conditions. The characterisation of the disease-causing genes involves analysing cells and animal models to understand the molecular mechanism underlying the condition. Identification of disease-causing genes is beneficial to both the affected individual and their family.

A genetic diagnosis helps improve clinical outcomes and genetic counselling, provides the potential for pre-implantation genetic diagnosis and potentially targeted treatments or therapeutics. The group’s studies aim to understand the mechanisms underlying disease and are an essential prerequisite for the development of treatment programs and prevention or onset-delay strategies for brain and mind disorders.

Contact us

Professor Paul Lockhart