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 minuses genetic heterogeneity, it is expected that there will be fewer susceptibility gene variants with greater overall effect and in geographically and culturally isolated populations, environmental ‘noise’ is reduced. Norfolk Island is part of the Commonwealth of Australia, but has enjoyed a large degree of self-governance. This population, originating from six paternal and ten maternal lineages, has since expanded, but severe immigration restrictions, its isolation from other populations and an exhaustive genealogical history means that it is recognised as a unique indigenous population, and makes it a valuable gene mapping resource. We have been working with the Norfolk population since the year 2000 and have accrued an abundance of phenotypic and genomic data, including SNPs (we have a 1000 Genomes imputed SNP set of >8million SNPs), STRs, CNVs, expression quantitative trait loci (eQTLs) and WGS data to investigate a number of complex disorders including CVD risk traits, migraine and ocular disorders including glaucoma.
Distinguished Professor Griffiths is a molecular geneticist with more than 30 years’ research experience. She undertakes research focused on identifying genes involved in common traits and disorders including migraine, cardiovascular disease, memory, dementia and concussion. She is Director of the Centre for Genomics and Personalised Health which aims to discover better methods of diagnosing disease, developing targeted treatments based on genetic information, and training the next generation of genomics scientists. DProf Griffiths is a passionate advocate of the translation of medical research through commercialisation and is the Director of the MTP Connect and industry led Bridge and BridgeTech programs, undertaking commercialisation training for the pharmaceutical and medical devices-technology fields across Australia, respectively. DProf Griffiths’ own genetics research at the Genomics Research Centre has led to diagnostic breakthroughs for several neurogenetic disorders, including familial migraine, ataxia, epilepsy and hereditary stroke and also led to the establishment of a new Defence Innovation Hub which is using next generational DNA technology to identify the remains of missing servicemen. The Hub is utilising aDNA techniques, whole genome sequencing and genetic profiling of family reference samples to aid in this remains identification. Prof Griffiths’ research has appeared in > 400 peer-reviewed international publications and she has obtained significant competitive and industry research funds to support her research team.
