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Impact Report 2024

View The Kids Research Institute Australia's 2024 impact report

Publications

Read our most recent Annual and Impact reports or browse those from previous years.

The Impact of ORIGINS

The impact of ground-breaking research is helping ORIGINS families

Research

Mining single-cell data for cell type-disease associations

A robust understanding of the cellular mechanisms underlying diseases sets the foundation for the effective design of drugs and other interventions. The wealth of existing single-cell atlases offers the opportunity to uncover high-resolution information on expression patterns across various cell types and

Research

Sensitization to immune checkpoint blockade through activation of a STAT1/NK axis in the tumor microenvironment

Our results identify a pretreatment tumor microenvironment that predicts response to immune checkpoint blockade, which can be therapeutically attained

Research

CRISPR gene editing and stem cell disease modelling: a new path to genetic and rare disease patient diagnosis

Vanessa Timo Fear Lassmann BSc (Hons), PhD BSc (Hons) MSc PhD Head, Translational Genetics Team Feilman Fellow; Head, Precision Health Research and

Mental Health & Wellbeing

Mental health and wellness is critical to the overall wellbeing of a person, and can also impact on physical health. Researchers are exploring the mental wellbeing of mothers and their experience of motherhood and pregnancy, and effective support options available. Mental health development of the child is also explored, as well as the impact of the COVID-19 pandemic on our ORIGINS families.

About

Rett syndrome is a rare but serious neurological disorder that affects about 1 in 9,000 girls. Even more rarely, boys may be affected.

Behavior and mutation type

We also wanted to find out whether any particular behaviours were associated with any specific mutation types.

A validation study of a modified Bouchard activity record

We compared parent/carer-reported physical activities with the number of steps counted by an accelerometer in girls and women with Rett syndrome.