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Research

Genomic testing for children with interstitial and diffuse lung disease (chILD): parent satisfaction, understanding and health-related quality of life

Research is needed to determine best practice for genomic testing in the context of child interstitial or diffuse lung disease. We explored parent's and child's health-related quality of life, parents' perceived understanding of a genomic testing study, satisfaction with information and the study and decisional regret to undertake genomic testing.

Research

An Observational Study to Assess the Effectiveness of 4CMenB against Meningococcal Disease and Carriage and Gonorrhea in Adolescents in the Northern Territory, Australia—Study Protocol

Invasive meningococcal disease (IMD) causes significant morbidity and mortality worldwide with serogroup B being the predominant serogroup in Australia and other countries for the past few decades. The licensed 4CMenB vaccine is effective in preventing meningococcal B disease. Emerging evidence suggests that although 4CMenB impact on carriage is limited, it may be effective against gonorrhoea due to genetic similarities between Neisseria meningitidis and Neisseria gonorrhoeae.

Research

In silico evolution of nucleic acid-binding proteins from a nonfunctional scaffold

Directed evolution emulates the process of natural selection to produce proteins with improved or altered functions. These approaches have proven to be very powerful but are technically challenging and particularly time and resource intensive. To bypass these limitations, we constructed a system to perform the entire process of directed evolution in silico.

Research

Circulating Memory B Cells in Early Multiple Sclerosis Exhibit Increased IgA+ Cells, Globally Decreased BAFF-R Expression and an EBV-Related IgM+ Cell Signature

Multiple sclerosis (MS) is an immune-mediated inflammatory disease of the central nervous system that results in demyelination of axons, inefficient signal transmission and reduced muscular mobility. Recent findings suggest that B cells play a significant role in disease development and pathology. To further explore this, B cell profiles in peripheral blood from 28 treatment-naive patients with early MS were assessed using flow cytometry and compared to 17 healthy controls.

Research

An expanded phenotype centric benchmark of variant prioritisation tools

Identifying the causal variant for diagnosis of genetic diseases is challenging when using next-generation sequencing approaches and variant prioritization tools can assist in this task. These tools provide in silico predictions of variant pathogenicity, however they are agnostic to the disease under study. We previously performed a disease-specific benchmark of 24 such tools to assess how they perform in different disease contexts.

Research

Resilience and Posttraumatic Growth after Burn: A Review of Barriers, Enablers, and Interventions to Improve Psychological Recovery

Burn injuries are traumatic experiences that can detrimentally impact an individual’s psychological and emotional wellbeing. Despite this, some survivors adapt to psychosocial challenges better than others despite similar characteristics relating to the burn.

Research

Two cases of Leclercia adecarboxylata septic arthritis in immunocompetent paediatric patients

Leclercia adecarboxylata is a rare cause of septic arthritis in children, and has intrinsic resistance to common antibiotics. We describe two cases of L. adecarboxylata septic arthritis in children that required re-presentation to hospital with prolonged treatment, and highlight the importance of considering L. adecarboxylata as a potential cause of infection among children with penetrating injuries and associated environmental exposure.

News & Events

Researcher joins national push to unlock the secrets behind MS

A The Kids Research Institute Australia researcher will work to better understand the immune system mechanisms that cause multiple sclerosis, thanks to a new grant from MS Australia. 

News & Events

Prestigious fellowship to help end the cycle of painful ear infections

A The Kids Research Institute Australia ear health researcher has received a prestigious national fellowship to support her search for new therapies to improve the lives of kids who suffer repeat middle ear infections.

News & Events

High praise: two The Kids Researchers inducted into WA Women’s Hall of Fame

Congratulations to two of The Kids Research Institute Australia’s most respected female researchers – Professor Donna Cross and Professor Britta Regli-von Ungern-Sternberg – on being inducted into the Western Australian Women’s Hall of Fame.