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Confirmation of childhood acute lymphoblastic leukemia Variants, ARID5B and IKZF1, and interaction with parental environmental exposuresThe polygenic nature of childhood ALL predisposition together with the timing of environmental triggers may hold vital clues for disease etiology.
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Genetic and functional evidence for a role for SLC11A1 in susceptibility to otitis media in early childhood in a Western Australian populationOtitis media (OM) is a common disease in early childhood characterised by inflammation of the middle ear.
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Association of a NOD2 gene polymorphism and T-helper 17 cells with presumed ocular toxoplasmosisWe assessed 30 sibships and 89 parent/case trios of presumed ocular toxoplasmosis (POT) to evaluate associations with polymorphisms in the NOD2 gene.
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Cytokine responses to novel antigens in a peri-urban population in Brazil exposed to Leishmania infantum chagasiVisceral leishmaniasis (VL) is fatal if untreated, and there are no vaccines for this disease
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Genome-Wide Association Study to Identify the Genetic Determinants of Otitis Media Susceptibility in ChildhoodWe identified several novel candidate genes which warrant further analysis in cohorts matched more precisely for clinical phenotypes.
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P2X7 receptor-mediated killing of an intracellular parasite, Toxoplasma gondii, by human and murine macrophagesThe P2X7R is highly expressed on the macrophage cell surface, and activation of infected cells by extracellular ATP has been shown to kill intracellular bacte
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Dissection of the genetics of Parkinson's disease identifies an additional association 5' of SNCA and multipleDissection of the genetics of Parkinson's disease identifies an additional association 5' of SNCA and multiple associated haplotypes at 17q21We performed...

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.

Research
Translating aboriginal genomics — four letters closing the gapEstablishing a genomic reference for Australian Aboriginal populations