Dr Karen Mather, Leader of the Genetics and Genomics Group at the Centre for Healthy Brain Ageing (CHeBA), along with Associate Professor Wei Wen And Dr Anbu Thalamuthu and three other eminent national and international researchers, recently received a 2015 UNSW Goldstar Award of $40,000 to develop their project “Identifying the genetic determinants of white matter hyperintensities”.
White matter hyperintensities (WMHs) are abnormalities observed on brain scans, which are common in older adults. WMHs are a marker of cerebrovascular small vessel disease and high WMH burden is associated with age-related decline and disease including dementia. However, according to Dr Mather our understanding of the aetiology and development of WMHs is limited.
Despite moderate to high heritability, prior WMH genetic association studies have failed to discover significant variants.
“This missing heritability may be due to the range of disparate methods used to quantify WMHs, which may introduce variability and error,” explains Dr Mather.
“Our project seeks to develop a standardised method of measuring WMHs. Secondly, it aims to identify the genes that contribute to the development of WMHs by pooling data and results from studies across the world.”
The project aims to bring together population studies of over 3,500 middle-aged to older adults with neuroimaging and genetic data. WMH data will be extracted and genome-wide association studies will be undertaken to identify genetic variants for WMHs and to uniquely examine subcategories of WMHs and sex differences.
“The standardisation of WMH measurement will provide an invaluable resource for not only genetic studies but other projects in the future seeking to clarify the protective and risk factors for WMH development and progression, which will lead to improved health outcomes for older adults,” says Dr Mather.
Each year, UNSW allocates Goldstar Awards to UNSW researchers who narrowly miss out on grants in the ARC Discovery and NHMRC Project grant funding rounds. The awards are to support UNSW's best researchers to conduct initial research on the proposed research program and to allow the investigator to further refine and improve the application for re-submission.