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Research

Early progressive encephalopathy in boys and MECP2 mutations

MECP2 mutations mainly occur in females with Rett syndrome. Mutations have been described in 11 boys with progressive encephalopathy...

Research

NTNG1 mutations are a rare cause of Rett syndrome

A translocation that disrupted the netrin G1 gene (NTNG1) was recently reported in a patient with the early seizure variant of Rett syndrome (RTT).

Research

Human Papillomavirus vaccination for the prevention of cervical neoplasia: is it appropriate to vaccinate women older than 26?

Cervical cancer mortality has been reduced in Australia because of effective screening programs, but there are still about 800 new cases...

Research

Does commencement of a gluten- free diet improve blood glucose control in children and young people with Type 1 Diabetes and Coeliac Disease?

If the gut becomes damaged it may not be able to process the foods that we eat as well as it used to. This may also affect how we look after diabetes.

Research

Early Moves Project

The Early Moves study is investigating whether a baby’s early movements can predict learning difficulties later in childhood.

Resources for CIRCA DIEM Parents and Caregivers

The CIRCA DIEM Study is a clinical research study being coordinated by the Chronobiology Team at Telethon Kids Institute, who are based in Perth, Western Australia and involving research teams from around the world.

Research

DEFEND CF: Biomarkers to define the treatment end-point for pulmonary exacerbations in cystic fibrosis

Sensitive and reliable tests are required to monitor lung disease severity in cystic fibrosis.

Research

Developing a ‘Food Atlas’ for Western Australia to map, measure and monitor food access

This unique interdisciplinary project, funded by Healthway, aims to develop a Food Atlas tool for mapping, measuring, and monitoring food access across Western Australia.