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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

The genetic associations of acute anterior uveitis and their overlap with the genetics of ankylosing spondylitis

These 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...

Polymorphism in a lincRNA Associates with a Doubled Risk of Pneumococcal Bacteremia in Kenyan Children

Identified an association between polymorphisms in a long intergenic non-coding RNA (lincRNA) gene (AC011288.2) and pneumococcal bacteremia

Wound healing genes and susceptibility to cutaneous leishmaniasis in Brazil

Here we examined single nucleotide polymorphisms (SNPs) in these genes as risk factors for cutaneous (CL) and mucosal leishmaniasis (ML), and leishmaniasis...

A retrospective study of Babesia macropus associated with morbidity and mortality

This 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...

Epigenetics in infectious diseases

Viruses, bacteria, and parasites have developed strategies to invade and establish long-term infections in their hosts.

Directing immune development to curb sky-rocketing disease

Once upon a time it was infectious diseases like polio, measles or tuberculosis that most worried parents. With these threats now largely under control, parents face a new challenge – sky-rocketing rates of non-infectious diseases such as asthma, allergies and autism.

Association of a NOD2 gene polymorphism and T-helper 17 cells with presumed ocular toxoplasmosis

We assessed 30 sibships and 89 parent/case trios of presumed ocular toxoplasmosis (POT) to evaluate associations with polymorphisms in the NOD2 gene.

New findings in the pathogenesis of otitis media

This study was the first to concurrently identify middle ear pathogens in both bacterial biofilm and intracellularly in the middle ear mucosa of children and to identify extensive DNA stranding in the MEF from children with AOM