Precision health, cohort genomics and translational research
The Genomics Research Centre at QUT undertakes research aimed at identifying the genes involved in a variety of complex traits and disorders, with a focus on neurogenetic and cerebrovascular disorders. The Centre has also translated some of this research through regular NATA accredited diagnostic testing for several neurovascular disorders including rare and severe migraine sub-types, hereditary stroke and ataxias. To undertake our molecular genetics research we have established a significant bank of population genomics resources including case-control, multigenerational pedigree and even a genetic isolate cohort. Research with this isolated cohort from Norfolk Island has spanned over 20 years. Norfolk Island is a small geographically isolated island located off the east coast of Australia. The majority of the inhabitants on the island can trace their ancestry back to a limited number of founders who were part of the famous 1789 mutiny on the HMS Bounty involving a number of male mutineers and their female Tahitian partners. Such isolated founder effect populations offer several advantages over mainstream populations for genomic studies of disease. The limited number of ancestors reduces genetic heterogeneity, potentially leading to fewer susceptibility gene variants with greater overall effect and in addition, in geographically and culturally isolated populations, environmental ‘noise’ is reduced. In 2000, we initiated the Norfolk Island Health Study to focus on public health measures and the genetics of cardiovascular disease risk traits in this population. A wide range of health information was collected via questionnaires, measurements, biochemistry and genetic analysis in 2000, and at subsequent visits in 2007 and 2010. In 2021 a 20-year longitudinal collection was also undertaken focused on CVD risk traits but also on chronic kidney disease development. To date we have collected 1158 unique Norfolk individuals, many of whom can trace their ancestry based to the original founders and undertaken genome wide association and linkage studies, whole genome sequencing, gene expression and epigenetic analyses in relation to a range of traits. We have accrued an abundance of phenotypic and genomic data, including SNPs (imputed SNP set of >8million SNPs), STRs, CNVs, expression quantitative trait loci and WGS data to investigate a number of complex traits and disorders including cardiovascular, kidney, migraine, eye health and ageing related measures and we continue to investigate genetic and environmental traits in this unique admixed population.
Bio
Prof Lyn Griffiths is a Distinguished Professor in molecular genetics with more than 30 years’ research experience in this field. She is also Director of the Centre for Genomics and Personalised Health which is focused on discovering better methods of diagnosing disease, developing targeted treatments based on genetic information, and training the next generation of genomics scientists. In addition, she is a passionate advocate of the translation of medical research through commercialisation and is currently the Director of the industry-led Bridge and BridgeTech programs, undertaking commercialisation training for the pharmaceutical and medical devices-technology fields across Australia, respectively. Her own research at the Genomics Research Centre has involved population and translational genomics with a focus on identifying the genes involved in common complex traits and disorders including migraine, concussion, memory and CVD risk traits. This research has involved case-control cohorts, large multigenerational pedigrees and also a cohort from the Norfolk Island genetic isolate. Her research has led to diagnostic breakthroughs for several neurogenetic disorders, including familial migraine, ataxia, epilepsy and hereditary stroke. Her research has appeared in more than 480 peer-reviewed international journals, and she has been awarded significant competitive and industry research funds to support her molecular and population genetics research.
