Genetics and Epigenomics

Centre for Healthy Brain Ageing (CHeBA) Research - Genetics and Epigenomics Group
The Genetics & Epigenomics group has grown out of our interest in gaining a greater insight into the genetic factors contributing to brain ageing and age-related decline and disease. Heritability studies suggest that there is a genetic component to most age-related traits.

About the Genetics and Epigenomics 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, epigenetic and transcriptomic analysis using samples from three different CHeBA studies. We have an active interest in epigenetics, specifically examining the relationships between DNA methylation, non-coding RNAs and ageing-related traits and disease. Our 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 ageing, age-related decline and disease, with a focus on the brain.


We have collected samples for genetic, epigenetic and transcriptomic analyses from participants of the Sydney Memory and Ageing Study (MAS), the Older Australian Twins Study (OATS) and the Sydney Centenarian Study (SCS). 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 has also been completed for a subsample , including 100 centenarians. Brain samples are also being collected from national and international brain banks, to examine the changes in the transcriptome across adulthood.

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.
  • EADB (PDF): A European DNA bank for deciphering the missing heritability of Alzheimer’s disease.
  • BRIDGET (PDF): Brain Imaging, cognition, Dementia and next generation Genomics: a Transdisciplinary approach to search for risk and protective factors of neurodegenerative disease
  • IGEMS: Consortium on Interplay of Genes and Environment across Multiple Studies


  • Dr Karen Mather, Group Leader
  • Dr Sumangali Gobhidharan
  • Ms Sri Chandana Kanchibhotla
  • Dr Mari Kondo
  • Professor Perminder Sachdev
  • Dr Anbupalam Thalamuthu


  • Associate Professor Nicola Armstrong, Curtin University
  • Professor John Attia, Newcastle University
  • Professor Bernhard Baune, University of Adelaide
  • Associate Professor John Kwok, Sydney University
  • Professor Peter Schofield, Neuroscience Research Australia


  • Jessica Lazarus, PhD candidate
  • Dr Adith Mohan, PhD candidate
  • Mary Revelas, PhD candidate
  • Toyin Abdulsalam, PhD candidate
  • Annabel Matison, PhD candidate

Prospective Students: We value the contributions of our students and any interested prospective students are more than welcome to contact Dr Karen Mather or Dr Anbupalam Thalamuthu to discuss potential projects. Topics include polygenic risk scores and ageing; circular RNAs and ageing; using whole genome sequencing to investigate human ageing and longevity. Top-up PhD scholarships may also be available.

Funding Acknowledgements

We gratefully acknowledge the following funding bodies:

  • 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, 1085606, 1045325
  • NHMRC/ARC Strategic Award 401162
  • NHMRC National Institute for Dementia Research Grants (1115575, 1115462, 1151854)
  • CSIRO Flagship Collaboration Grant
  • Yulgilbar Foundation Alzheimer’s Research Program
  • Thomas Foundation
  • Sachdev Foundation
  • Mason Foundation Grant
  • Rebecca Cooper Project Grant

Group Projects

  • Genetics, epigenetics and transcriptomics of exceptional longevity, Alzheimer’s disease, brain neuroimaging traits, late-life depression and other age-related measures
  • Using the identical twin phenotypic discordant model to uncover genetic, epigenetic and environmental factors contributing to ageing-related phenotypes
  • Development of statistical methods for analysing gene expression and methylation networks for association with age-related phenotypes.