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We hypothesised that MECP2 mutations occur predominantly on the male derived X chromosome.

We wanted to describe the range and variability in the expression of symptoms in girls and women with Rett syndrome.

We compared the symptoms and genetic characteristics of girls with Rett syndrome and both with and without initial diagnosis of autism.

We described the occurrence of scoliosis in Rett syndrome, how it develops and how it is influenced by the individual's age, mutation type, and walking ability.

Twenty-five families of girls who underwent a spinal fusion between 2006-2012 were interviewed to explore the course of their daughter's recovery.

Many girls and women with Rett syndrome experience seizures. We wanted to know if there were any factors that influenced the age when seizures first developed.

News & Events

Meet Emme-Lotte our Research Intern

News & Events

The PCH Diabetes Clinical team will again be collecting T1DAL surveys between June and July 2024, followed by PAID between November 2024 and January 2025.

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If you, or your child is aged between 2 – 18 years and has type 1 diabetes, we invite you to complete a few questions to help us see how you manage your hypos at home.

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The Rio Tinto Children’s Diabetes Centre; a JDRF Global Centre of Excellence (the Centre), announces 2023 Round 2, Honours and PhD scholarships for students dedicated to type 1 diabetes (T1D) research.