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Tobias Jenny Strunk Mountain MD, PhD, FRACP MBA MClinEpi Head, Neonatal Health Program Manager, Neonatal Health / Protect Trial tobias.strunk@
As malaria incidence decreases and more countries move towards elimination, maps of malaria risk in low-prevalence areas are increasingly needed. For low-burden areas, disaggregation regression models have been developed to estimate risk at high spatial resolution from routine surveillance reports aggregated by administrative unit polygons.
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.
Exome sequencing has enabled molecular diagnoses for rare disease patients but often with initial diagnostic rates of ~25-30%. Here we develop a robust computational pipeline to rank variants for reassessment of unsolved rare disease patients. A comprehensive web-based patient report is generated in which all deleterious variants can be filtered by gene, variant characteristics, OMIM disease and Phenolyzer scores, and all are annotated with an ACMG classification and links to ClinVar.
Here we focus on the problem of prioritising variants with respect to the observed disease phenotype
A vaccine to prevent rheumatic heart disease (RHD) and other life-threatening conditions caused by the common Strep A bacteria is a step closer thanks to funding announced by Minister for Indigenous Health, Hon Ken Wyatt AM, MP, in Perth today.
The Infectious Disease Ecology and Modelling team led by Professor Nick Golding, combines mathematical and statistical modelling, ecology, and public health to address malaria and other infectious and vector-borne diseases. The team uses modelling and maps to measure the risk posed by some of the world’s most important and neglected diseases – including malaria, Japanese Encephalitis and COVID-19 – and provide rapid modelling analyses to policy makers.
One of Australia’s leading cancer research centres continues to be powered by parents who decided to fight back. Hard.
Eight outstanding researchers from The Kids Research Institute Australia and the Institute-led Broome STEM Festival are finalists in the 2025 Premier’s Science Awards.