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        Research

        Evaluating the genetic contribution to rheumatic heart disease pathogenesis in Australian Aboriginal and Torres Strait Islander communities

        Jenefer Jonathan Blackwell Carapetis AM JM JR BSc with First Class Honours, PhD, DSc, FMedSci, FAA AM MBBS FRACP FAFPHM PhD FAHMS Head, Genetics & ...

        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

        Genetic and functional evaluation of the role of CXCR1 and CXCR2 in susceptibility to visceral leishmaniasis in north-east India

        IL8RA and IL8RB, encoded by CXCR1 and CXCR2, are receptors for interleukin (IL)-8 and other CXC chemokines involved in chemotaxis and activation of... ...

        Research

        Gene editing and cardiac disease modelling for the interpretation of genetic variants of uncertain significance in congenital heart disease

        Genomic sequencing in congenital heart disease (CHD) patients often discovers novel genetic variants, which are classified as variants of uncertain significance (VUS). Functional analysis of each VUS is required in specialised laboratories, to determine whether the VUS is disease causative or not, leading to lengthy diagnostic delays. ...

        Research

        Molecular-genetic profiling and high-throughput in vitro drug screening in NUT midline carcinoma-An aggressive and fatal disease

        Our data emphasize the heterogeneity of NMC and highlights genetic aberrations that could be explored to improve therapeutic strategies. ...

        Research

        Genetic Variants in the IL-4/IL-13 Pathway Influence Measles Vaccine Responses and Vaccine Failure in Children from Mozambique

        We investigated IL-4, IL-13, and IL-4Rα polymorphisms and their impact on measles IgG responses and measles vaccine failure, in two separate cohort. ...

        Research

        Sex-stratified Genome-wide Association Studies Including 270,000 Individuals Show Sexual Dimorphism in Genetic Loci for Anthropometric Traits

        Our results demonstrate the value of sex-specific GWAS to unravel the sexually dimorphic genetic underpinning of complex traits. ...

        Research

        Measuring the impact of genetic knowledge on intentions and attitudes of the community towards expanded preconception carrier screening

        Having good genetic knowledge may not be enough to understand core concepts of preconception carrier screening ...

        Research

        Genetic variants of TLR4, including the novel variant, rs5030719, and related genes are associated with susceptibility to clinical malaria in African children

        Malaria is a deadly disease caused by Plasmodium spp. Several blood phenotypes have been associated with malarial resistance, which suggests a genetic component to immune protection. ...

        Research

        Genetic and functional evidence for a role for SLC11A1 in susceptibility to otitis media in early childhood in a Western Australian population

        Otitis media (OM) is a common disease in early childhood characterised by inflammation of the middle ear. ...

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