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Genetics and Health

The Genetics and Health Team's priorities lie in understanding the biological mechanisms behind development of a range of rare and complex diseases, to help improve diagnosis, treatment and prevention both in Australian populations and internationally.

News & Events

Decades-old work picked up by Google’s DeepMind leads to global scientific breakthrough

A researcher's work from 20 years ago has helped to crack one of biology’s biggest mysteries.

Research

Common and Rare Genetic Variants That Could Contribute to Severe Otitis Media in an Australian Aboriginal Population

Our goal was to identify genetic risk factors for severe otitis media (OM) in Aboriginal Australians.

Research

Zika Virus Changes Methylation of Genes Involved in Immune Response and Neural Development in Brazilian Babies Born With Congenital Microcephaly

The recent increase in babies born with brain and eye malformations in Brazil is associated with Zika virus (ZIKV) infection in utero. ZIKV alters host DNA methylation in vitro. Using genome-wide DNA methylation profiling we compared 18 babies born with congenital ZIKV microcephaly with 20 controls. We found ZIKV-associated alteration of host methylation patterns, notably at RABGAP1L which is important in brain development, at viral host immunity genes MX1 and ISG15, and in an epigenetic module containing the causal microcephaly gene MCPH1. Our data support the hypothesis that clinical signs of congenital ZIKV are associated with changes in DNA methylation.

Research

Linking the westernised oropharyngeal microbiome to the immune response in Chinese immigrants

Human microbiota plays a fundamental role in modulating the immune response. Western environment and lifestyle are envisaged to alter the human microbiota with a new microbiome profile established in Chinese immigrants, which fails to prime the immune system. Here, we investigated how differences in composition of oropharyngeal microbiome may contribute to patterns of interaction between the microbiome and immune system in Chinese immigrants living in Australia.

Research

Epigenetics in infectious diseases

Viruses, bacteria, and parasites have developed strategies to invade and establish long-term infections in their hosts.

Research

Insights into the possible role of IFNG and IFNGR1 in Kala-azar and Post Kala-azar Dermal Leishmaniasis in Sudanese patients

Uniformly low expression of IFN and IFNGR1 in PKDL skin biopsies could explain parasite persistence

Research

Alternative Recruitment Strategies Influence Saliva Sample Return Rates in Community-Based Genetic Association Studies

Using data from three large-scale genetic association studies we compared recruitment strategy and sample return rates.

Research

A "Candidate-Interactome" Aggregate Analysis of Genome-Wide Association Data in Multiple Sclerosis

The interaction between genotype and Epstein Barr virus emerges as relevant for multiple sclerosis etiology.

Research

New findings in the pathogenesis of otitis media

This study was the first to concurrently identify middle ear pathogens in both bacterial biofilm and intracellularly in the middle ear mucosa of children and to identify extensive DNA stranding in the MEF from children with AOM