The Genomics and Epigenomics Group at CHeBA has contributed to over 80 publications. Five recent papers are featured below.

Investigating Olfactory Gene Variation and Odour Identification in Older Adults

Raj S, Thalamuthu A, Armstrong NJ, Wright MJ, Kwok JB, Trollor JN, Ames D, Schofield PR, Brodaty H, Sachdev PS, Mather KA. Genes (Basel). 2021 12(5):669. doi: 10.3390/genes12050669

This paper was written by our undergraduate Medicine student, Sidd, who undertook this research during his 4th year Independent Learning Project. Sidd looked at whether variants found in the olfactory receptors were associated with smell identification using data from the Sydney Memory and Ageing Study and the Older Australian Twins Study. 

The influence of rs53576 polymorphism in the oxytocin receptor (OXTR) gene on empathy in healthy adults by subtype and ethnicity: a systematic review and meta-analysis

Chander RJ, Mather KA, Cleary R, Grainger SA, Thalamuthu A, Numbers K, Kochan NA, Armstrong NJ, Brodaty H, Henry JD, Sachdev PS. Rev Neurosci. 2021; doi: 10.1515/revneuro-2021-0038

Russell is a PhD student at CHeBA and in this paper he looked at a single SNP in the oxytocin receptor gene and its relationship to empathy in adults. He undertook a meta-analysis using data from our Sydney Memory and Ageing Study and 19 other studies from around the world.

Going around in circles: deciphering the role of circular RNAs in neurodegenerative disease

Kondo MA, Mohan A, Mather KA. Curr Opin Psychiatry. 2020; 33(2):141-147. doi: 10.1097/YCO.0000000000000582

This review looks at circular RNAs and the neurodegenerative diseases – Alzheimer’s disease and Parkinson’s disease. These RNAs are found throughout the body and are relatively stable compared to other RNAs due to their circular structure. They may play important roles in the brain, ageing and neurodegenerative disease. 

The Australian Imaging Biomarkers and Lifestyle Flagship Study of Ageing. Differential blood miRNA expression in brain amyloid imaging-defined Alzheimer's disease and controls

Wu HZY, Thalamuthu A, Cheng L, Fowler C, Masters CL, Sachdev P, Mather KA. Alzheimers Res Ther. 2020; 12(1):59. doi: 10.1186/s13195-020-00627-0

Helen was a PhD student with the Genomics and Epigenomics Group and completed her PhD in 2019.  She identified small non-coding RNAs (microRNA) blood biomarkers for Alzheimer’s disease, which may in the future lead to the development of effective clinical tests to diagnose Alzheimer’s Disease.

Common Genetic Variation Indicates Separate Causes for Periventricular and Deep White Matter Hyperintensities

Armstrong NJ, Mather KA, Sargurupremraj M et al Stroke. 2020; 51(7):2111-2121. doi: 10.1161/STROKEAHA.119.027544

White matter hyperintensities are observed on brain scans of older adults.  They begin to appear in middle age and a high burden of white matter hyperintensities is linked to negative health outcomes, such as stroke. They are thought to be related to brain small vessel disease, but the casual factors are still largely unknown. This paper reports a world-1st international genome-wide association study using data from more than 26,000 participants examining 2 sub-classifications of white matter hyperintensities. We identified novel genes elucidating the underlying pathological pathways, showing that these two measures are distinct classifications confirming their utility in research and potentially in the clinic.