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Find out how The Kids Research Institute Australia works with Government to influence policy and practice.

Research

Sébastien Rishi S. Laurence Timo Malinge Kotecha Cheung Lassmann PhD MB ChB (Hons) MRCPCH FRACP PhD BPharm (Hons) MBA PhD BSc (Hons) MSc PhD

Research Theme

Uses personalised approaches to healthcare, aiming to tailor prevention and treatment strategies based on genetic, environmental, and lifestyle factors. This theme strives to make healthcare more targeted and effective for each child's unique needs.

Research

As both bronchiolitis and bronchiectasis are diseases of the airway surface, we will comprehensively study the airway surface and factors affecting the airway surface in infants hospitalised with bronchiolitis.

Research

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.

Publications, papers and findings coming out of ORIGINS and its sub-projects

MECP2 duplication syndrome is a rare disorder neurodevelopmental disorder that, unlike Rett syndrome, mostly affects boys.

Our research covers a broad range of areas from the influence of mutation type on health outcomes to factors impacting on the lives of familes.

Regression, including the loss of previously learned skills, such as hand function and communication skills, is one of the most suggestive features of Rett synd

Our study investigated the quality of measurements obtained using the Rett Syndrome Gross Motor Scale.