Genetics & Epigenomics

The Genetics & Epigenomics group has grown out of our interest in the genetics of brain ageing and age-related disease.  Heritability studies suggest that there is a genetic component to most age-related traits. To fully understand ageing and age-related diease, we need to better understand how both genetics and environment contribute to these processes. Successful CHeBA grants have enabled us to collect genetic samples in addition to demographic, lifestyle, neuroimaging and health data that facilitates genetic studies investigating brain ageing and age-related disease.

About the Group: 

Our work began in 2005 when the first DNA samples were donated by participants from the Sydney Memory and Ageing Study. Since the arrival of Dr Karen Mather in 2009 and Dr Anbu Thalamuthu in 2012, both of whom work exclusively on the genomics and epigenomics studies of CHeBA, the group has been able to expand its activities and now includes genetic samples from three different CHeBA studies. Gene expression studies are also being performed. We also have an active interest in epigenetics, specifically examining the relationships between DNA methylation, non-coding RNAs and ageing-related traits and disease. This work aims to provide insights into the biological processes underlying ageing, age-related decline and disease.  It may also assist in the early identification of individuals who are at greater risk of age-related decline, disability and disease and thereby target them for potential interventions.  As epigenetic modifications are potentially modifiable by environmental factors, this research may suggest novel preventative or therapeutic strategies for altering epigenetic profiles in older adults that may reduce the risk of age-related decline and disease.


  • To gain a better understanding of the genetic, transcriptomic and epigenetic factors involved in brain ageing and age-related decline and disease.



We have collected samples for genetic, epigenetic and transcriptomic analyses from participants of the Sydney Memory & Ageing Study (MAS), the Older Australian Twins Study (OATS) and the Sydney Centenarian Study (SCS). All laboratory work is undertaken at Professors Peter Schofield and John Kwok’s laboratory at Neuroscience Research Australia (NeuRA).  Genome-wide genotyping has been undertaken and completed for all three studies.  We are also undertaking studies examining the transcriptome (RNAseq, microarrays) and interrogating the methylome (microarrays, pyrosequencing).  Whole genome sequencing and methylC-sequencing will also be completed for a subsample early in 2017.

International collaborations: We are currently participating in several large international consortia aiming to discover new genetic variants and epigenetic factors associated with various traits and diseases, including Alzheimer’s disease.

These consortia include:

  • CHARGE: Cohorts for Heart and Ageing Research in Genetic Epidemiology, which investigates the genetics of ageing and age-related disease.
  • ENIGMA: Enhancing Neuro Imaging Genetics Through Meta-Analysis, which examines the genetics of brain structure and function.
  • EurodiscoTWIN: European Discordant Twin Study, which aims to carry out research on disease, physical and psychological traits using twins.
  • EADB: A European DNA bank for deciphering the missing heritability of Alzheimer’s disease.
  • BRIDGET: Brain Imaging, cognition, Dementia and next generation Genomics: a Transdisciplinary approach to search for risk and protective factors of neurodegenerative disease



image - Genetics & Epigenomics

Prof. Perminder Sachdev

image - Genetics & Epigenomics

Dr Karen Mather

image - Genetics & Epigenomics

Dr Anbupalam Thalamuthu



Dr Nicola Armstrong, Murdoch University

Assoc. Prof. John Kwok, Neuroscience Research Australia

Prof. Peter Schofield, Neuroscience Research Australia



Jessica Lazarus, PhD candidate

Adith Mohan, PhD candidate

Mary Revelas, PhD candidate

Helen Wu, PhD candidate


Prospective Students: Prospective Students: We value the contributions of our students and any interested prospective students are more than welcome to contact us to discuss potential projects.  Top-up PhD scholarships may also be available. 


Funding Acknowledgements

Alzheimer's Australia Dementia Research Foundation Postdoctoral Fellowship (Karen Mather)

NHMRC Program Grants 350833, 568969, 109308

NHMRC Capacity Building Grant 568940

NHMRC Project Grants 630593, 1045325

NHMRC/ARC Strategic Award 401162

CSIRO Flagship Collaboration Grant

Yulgilbar Foundation Alzheimer’s Research Program

Mason Foundation Grant


Group Projects

MicroRNAs as Biomarkers for Alzheimer’s Disease – Comparison Between Australian and Chinese Populations

Prevention and Management of Mental Disorders in Older Australians (Capacity Building Grant)

Finding Genetic Variants for Ageing-Related Measures using GWAS - Genome-wide Association Studies

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