Skip to content
The Kids Research Institute Australia logo
Donate

No results yet

Search

Research

Tricho-hepatic-enteric syndrome (THES) without intractable diarrhoea

We report an 8 year old girl who was diagnosed with THES by the Undiagnosed Disease Program-WA with compound heterozygous pathogenic variants in SKIV2L

Research

Mapping the global prevalence, incidence, and mortality of Plasmodium falciparum, 2000-17: a spatial and temporal modelling study

High-resolution maps of P falciparum are a resource for informing global policy and malaria control planning, programme implementation, and monitoring initiatives

Research

Epigenome-wide meta-analysis of DNA methylation and childhood asthma

Novel loci differentially methylated in newborns represent potential biomarkers of risk of asthma by school age

Research

Genome-wide association meta-analysis of single-nucleotide polymorphisms and symptomatic venous thromboembolism during therapy for ALL and lymphoma in caucasian children

The largest GWAS meta-analysis conducted to date associating SNPs to venous thromboembolism in children and adolescents treated on childhood ALL protocols

Research

Study protocol of a multicentre, randomised, controlled trial evaluating the effectiveness of probiotic and peanut oral immunotherapy

Peanut allergy is the the most common cause of life-threatening food-induced anaphylaxis. There is currently no effective long-term treatment. There is a pressing need for definitive treatments that improve the quality of life and prevent fatalities. Allergen oral immunotherapy (OIT) is a promising approach, which is effective at inducing desensitisation; however, OIT has a limited ability to induce sustained unresponsiveness (SU).

Research

Variants associated with HHIP expression have sex-differential effects on lung function

Lung function is highly heritable and differs between the sexes throughout life. However, little is known about sex-differential genetic effects on lung function. We aimed to conduct the first genome-wide genotype-by-sex interaction study on lung function to identify genetic effects that differ between males and females.

Research

The non-specific and sex-differential effects of vaccines

The textbook view of vaccination is that it functions to induce immune memory of the specific pathogen components of the vaccine, leading to a quantitatively and qualitatively better response if the host is exposed to infection with the same pathogen

Research

Re-engaging an inactive cohort of young adults: Evaluating recruitment for the Kidskin Young Adult Myopia Study

We evaluate our ability to recruit participants for the Kidskin Young Adult Myopia Study, a follow-up of the Kidskin Study