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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.

A flexible computational pipeline for research analyses of unsolved clinical exome cases

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.

Personalised analytics for rare disease diagnostics

Here we focus on the problem of prioritising variants with respect to the observed disease phenotype

Low positive predictive value of International Classification of Diseases, 10th Revision codes in relation to rheumatic heart disease: a challenge for global surveillance

We outline a series of research initiatives to improve identification of RHD in administrative data thereby contributing to monitoring the RHD burden globally

Environmental and social determinants of acute rheumatic fever: a longitudinal cohort study

Prevention strategies in ARF endemic settings may be enhanced by targeting new members entering a community and children in environments of close contact

Candidate gene analysis supports a role for polymorphisms at TCF7L2 as risk factors for type 2 diabetes in Sudan

Multiethnic associations between T2D and SNPs at TCF7L2, CAPN10 and HHEX extend to Sub-Saharan Africa, specifically Sudan

The rare and undiagnosed diseases diagnostic service – application of massively parallel sequencing in a state-wide clinical service

The Rare and Undiagnosed Diseases Diagnostic Service refers to a genomic diagnostic platform operating within the Genetic Services of Western Australia

Getting kids into gear for learning

Researchers from The Kids Research Institute Australia are running a school program designed to help children adjust their levels of alertness and attention in class.

Australian Research Data Commons (ARDC): Social Science Research Infrastructure Network (SSRIN)

This project forms Activity 3.5 of the Social Science Research Infrastructure Network (SSRIN) and focuses on the development of Indigenous-led guidelines to support the ethical, culturally appropriate use of government administrative data relating to Indigenous peoples.

The effectiveness of a Consumer Centred Tobacco Management (CCTM) approach in enabling mental health consumers to reduce or quit smoking

The aim of this pilot study is to test if the CCTM approach is more effective than business as usual methods at supporting mental health consumers to reduce their tobacco dependence or quit smoking altogether.