Neurogenetics and epigenetics

Lab head: John B Kwok
Location: Brain and MInd Centre - University of Sydney; 94 Mallet Street, Camperdown, 2050.

We are a dynamic group of scientists working on the identification and charactersiation of genetic variants that can impact on the disease process. Understanding of these key mechanisms may lead to the development of targeted therapeutic strategies. We are also interested in the epigenome in regards to disease risk and modifiable lifestyle factors, and the utlilty of epigenetic markers for diagnosis of disease.

Lab members: Associate Professor John B Kwok; Dr Carol Dobson-Stone; Dr Zac Chatterton; Ms Marianne Hallupp.
Research approach equipment: Next generation sequencing, DNA recombinant technology, cell culture models, bioinformatics, PCR, Western Blotting,Immunohistochemistry.

Confirmation and functional characterisation of dementia gene variants.

Primary supervisor: John Kwok

Next generation sequencing is a powerful technique to rapidly identify candidate mutations in patients. The project will involve:

1. Scanning of whole exome and whole genome sequence data from cohorts of dementia patients to identify candidate causative genetic variants.

2. Confirmation of candidates by Sanger sequencing.

3. Generation of cDNA expression vector clone with confirmed candidate genetiic variant.

4. Over-expression of vectors in cellular models comparing the biological effects of wildtype and mutant cDNAs.

Discipline: Pathology
Co-supervisors: Carol Dobson-Stone
Keywords: Dementia, Neurogenetics, Cell & Molecular Biology