Search
Research
Anti-Interleukin-10 Unleashes Transcriptional Response to Leishmanial Antigens in Visceral Leishmaniasis PatientsVisceral leishmaniasis (VL; Leishmania donovani) cases produce interferon-γ and tumor necrosis factor in response to soluble leishmanial antigen in whole-blood assays. Using transcriptional profiling, we demonstrate the impact of interleukin-10, a cytokine implicated in VL, on this response.
Research
A flexible computational pipeline for research analyses of unsolved clinical exome casesExome 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.
Research
Protective benefit of predominant breastfeeding against otitis media may be limited to early childhood: results from a prospective birth cohort studyOur findings are in line with a number of epidemiological studies which show a positive association between breastfeeding and OM in early childhood
Research
A microbiome case-control study of recurrent acute otitis media identified potentially protective bacterial generaWe characterised the nasopharyngeal microbiome of these children in comparison to children with rAOM to identify potentially protective bacteria.
Research
The rare and undiagnosed diseases diagnostic service – application of massively parallel sequencing in a state-wide clinical serviceThe Rare and Undiagnosed Diseases Diagnostic Service refers to a genomic diagnostic platform operating within the Genetic Services of Western Australia
Research
Expression profiling of Sudanese visceral leishmaniasis patients pre- and post-treatment with sodium stibogluconateThese results contribute to our understanding of immunopathology associated with visceral leishmaniasis and response to sodium stibogluconate treatment
Research
The genetic associations of acute anterior uveitis and their overlap with the genetics of ankylosing spondylitisThese findings also suggest that variants in ERAP1 have a differential impact on the risk of AAU when compared with AS, and hence the genetic risk for AAU...
Research
Genetic and epigenetic susceptibility to early life infectionTo date there have been relatively few studies on genetic determinants of susceptibility to neonatal infection and many of these have methodological...
Research
Examining ERBB2 as a candidate gene for susceptibility to leprosy (Hansen's disease) in BrazilThis study examines whether polymorphisms in the ERBB2 gene were associated with leprosy in primary and replication cohorts from northeastern Brazil.
Research
A retrospective study of Babesia macropus associated with morbidity and mortalityThis is a retrospective study of 38 cases of infection by Babesia macropus, associated with a syndrome of anaemia and debility in hand-reared or free-ranging...