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        Research

        Understanding leishmaniasis through HLA

        Jenefer Blackwell JM BSc with First Class Honours, PhD, DSc, FMedSci, FAA Head, Genetics & Health Jenefer.Blackwell@telethonkids.org.au Head, ...

        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

        Environmental enrichment intervention for Rett syndrome: an individually randomised stepped wedge trial

        Helen Jenny Leonard Downs HM JA MBChB MPH BApplSci (physio) MSc PhD Principal Research Fellow Program Head, Development and Disability +61 419 956 ...

        Research

        Maternal prebiotic supplementation during pregnancy and lactation modifies the microbiome and short chain fatty acid profile of both mother and infant

        Improving maternal gut health in pregnancy and lactation is a potential strategy to improve immune and metabolic health in offspring and curtail the rising rates of inflammatory diseases linked to alterations in gut microbiota. Here, we investigate the effects of a maternal prebiotic supplement (galacto-oligosaccharides and fructo-oligosaccharides), ingested daily from <21 weeks' gestation to six months' post-partum, in a double-blinded, randomised placebo-controlled trial.  ...

        Research

        Psychometric Properties of the EQ-5D-Y-5L for Children With Intellectual Disability

        The EQ-5D-Y-5L is a generic preference-based measure of health-related quality of life for children. This study aimed to describe the distributional properties, test-retest reliability, and convergent validity of the EQ-5D-Y-5L in children with intellectual disability (ID).  ...

        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

        Developmental Origins of Health and Disease (DOHaD): The importance of life-course and transgenerational approaches

        With well-established evidence that early life conditions have a profound influence on lifespan and health-span, new interventional birth cohorts are examining ways to optimise health potential of individuals and communities. These are aimed at going beyond preventing disease, to the conditions that facilitate flourishing from an early age. ...

        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

        Toxoplasma gondii infection is associated with mitochondrial dysfunction in-vitro

        Our results show perturbation of host mitochondrial function following T. gondii infection that likely impacts on pathogenesis of disease. ...

        Research

        CDKL5 variants: Improving our understanding of a rare neurologic disorder

        Providing new insights into the interpretation of genetic variants in a rare neurologi disorder, in the contexts of population sequencing data. ...

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