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Research

Classification and regression tree and spatial analyses reveal geographic heterogeneity

Genome wide linkage studies (GWLS) have provided evidence for loci controlling visceral leishmaniasis on Chromosomes 1p22, 6q27, 22q12 in Sudan...

News & Events

International expert to bring together WA leaders to improve outcomes for kids

Dr Jack Shonkoff, from Harvard University is visiting Perth this week as a guest of CoLab, Goodstart Early Learning and Child Australia.

Routines to maximise uptime

Learn about the importance of routines in enhancing uptime for children with Rett Syndrome, nurturing their engagement and fostering meaningful activities.

News & Events

CGM announcement

The PMH Diabetes Clinic welcomes the recent Federal Government announcement making fully subsidised Continuous Glucose Monitoring available to young people.

Research

CRISPR single base editing, neuronal disease modelling and functional genomics for genetic variant analysis: pipeline validation using Kleefstra syndrome EHMT1 haploinsufficiency

Over 400 million people worldwide are living with a rare disease. Next Generation Sequencing identifies potential disease causative genetic variants. However, many are identified as variants of uncertain significance and require functional laboratory validation to determine pathogenicity, and this creates major diagnostic delays.

Research

"The problem with running"-Comparing the propulsion strategy of children with Developmental Coordination Disorder and typically developing children

This study compared strategies of propulsion and power generation at the ankle during late stance/early swing in both walking and running in children with...

Research

Functional characterization of the MED12 p.Arg1138Trp variant in females: implications for neural development and disease mechanism

Seven female individuals with multiple congenital anomalies, developmental delay and/or intellectual disability have been found to have a genetic variant of uncertain significance in the mediator complex subunit 12 gene. The functional consequence of this genetic variant in disease is undetermined, and insight into disease mechanism is required.

Research

Therapeutic development to accelerate malaria control through intentional intervention layering

The clinical development of novel vaccines, injectable therapeutics, and oral chemoprevention drugs has the potential to deliver significant advancements in the prevention of Plasmodium falciparum malaria. These innovations could support regions in accelerating malaria control, transforming existing intervention packages by supplementing interventions with imperfect effectiveness or offering an entirely new tool.

Research

Streptococcus pyogenes pharyngitis elicits diverse antibody responses to key vaccine antigens influenced by the imprint of past infections

Knowledge gaps regarding human immunity to Streptococcus pyogenes have impeded vaccine development. To address these gaps and evaluate vaccine candidates, we established a human challenge model of S. pyogenes pharyngitis. Here, we analyse antibody responses in serum and saliva against 19 antigens to identify characteristics distinguishing 19 participants who developed pharyngitis and 6 who did not.