Skip to content
The Kids Research Institute Australia logo
Donate

No results yet

Search

Showing results for "1"

Research

Gene editing and cardiac disease modelling for the interpretation of genetic variants of uncertain significance in congenital heart disease

Genomic sequencing in congenital heart disease (CHD) patients often discovers novel genetic variants, which are classified as variants of uncertain significance (VUS). Functional analysis of each VUS is required in specialised laboratories, to determine whether the VUS is disease causative or not, leading to lengthy diagnostic delays.

Research

Comprehensive Clinical Paediatric Assessment of Children and Adolescents Sentenced to Detention in Western Australia

To describe the comprehensive clinical paediatric assessment of a representative sample of children and adolescents (young people) sentenced to detention in Western Australia (WA) and participating in the first Fetal Alcohol Spectrum Disorder (FASD) prevalence study.

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...

Research

The early Human Capability Index (eHCI)

The Early Human Capability Index is a holistic measure intended to capture early child development across diverse cultures and contexts.

News & Events

Research award recipients making great progress in PNG

Two infectious disease researchers from Papua New Guinea (PNG) dedicated to reducing rates of childhood mortality in their home country are making significant advances thanks to support from the Deborah Lehmann Research Award (DLRA).

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.

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.