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Each family needs to select the appropriate types and levels of activity that suit their own individual needs and circumstances.

Through InterRett we collect information on individuals with Rett syndrome on a global level. If you are a participant you can complete your questionnaire here.

News & Events

Thanks for everyone who have contributed to and participated in this wonderful event to raise much needed funds to support Rett Syndrome research!

News & Events

Taylor is a remarkable young woman with Rett Syndrome who is leading an active country life with the support of her family and the local community.

Research

Acute rheumatic fever is an autoimmune disorder resulting from Group A Streptococcus pharyngitis or impetigo in children and adolescents, which may evolve to rheumatic heart disease (RHD) with persistent cardiac valve damage. RHD causes substantial mortality and morbidity globally, predominantly among socioeconomically disadvantaged populations, with an interplay of social determinants of health and genetic factors determining overall risk.

Research

We compared the effect of a heterologous wP/aP/aP primary series (hereafter mixed wP/aP) versus a homologous aP/aP/aP primary schedule (hereafter aP-only) on antibody responses to co-administered vaccine antigens in infants and toddlers.

Research

Processed electroencephalography (EEG) indices used to guide anesthetic dosing in adults are not validated in young infants. Raw EEG can be processed mathematically, yielding quantitative EEG parameters (qEEG). We hypothesized that machine learning combined with qEEG can accurately classify expired sevoflurane concentrations in young infants. Knowledge from this may contribute to development of future infant-specific EEG algorithms.

Research

When investigating whether a variant identified by diagnostic genetic testing is causal for disease, applied genetics professionals evaluate all available evidence to assign a clinical classification. Functional assays of higher and higher throughput are increasingly being generated and, when appropriate, can provide strong functional evidence for or against pathogenicity in variant classification. Despite functional assay data representing unprecedented value for genomic diagnostics, challenges remain around the application of functional evidence in variant curation.

Research

Aboriginal and Torres Strait Islander women experience a disproportionate burden of hyperglycaemia in pregnancy. A multi-component health systems intervention aiming to improve antenatal and postpartum care was implemented across Australia’s Northern Territory (NT) and Far North Queensland (FNQ) between 2016 and 2019. Components included clinician education, improving recall systems, enhancing policies and guidelines, and embedding Diabetes in Pregnancy (DIP) Clinical Registers in systems of care. This program was evaluated to determine impacts on clinical practice and maternal health.

Research

The aim of this study was to test the hypothesis that exercise in cool water results in a greater decrease in blood glucose concentration than in thermoneutral water or on land in individuals with type 1 diabetes.