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MECP2 mutations mainly occur in females with Rett syndrome. Mutations have been described in 11 boys with progressive encephalopathy...
Rett syndrome (RTT) is an X linked neuro-developmental disorder affecting mostly girls. Mutations in the coding region of MECP2 are found in 80% of classic...
A translocation that disrupted the netrin G1 gene (NTNG1) was recently reported in a patient with the early seizure variant of Rett syndrome (RTT).
The research of the Translational Genetics team is focussed on providing molecular analysis of genetic variants (gene mutations), to better inform the early and accurate diagnosis of children living with genetic and rare diseases.
Our volunteers play one of the most important roles in our Discovery Centre – they help kids play and understand the games.
A research program, which enables over 25 important respiratory research studies to be undertaken, celebrated the recruitment of its 300th participant on 14 December 2022.
Will Sciberras
Swimming safety Remember that your pump should not be disconnected for more than two hours at a time — if you disconnect your pump for swimming,
Love them or hate them, but sleepovers are a popular pastime for children. Understandably, parents of children living with type 1 diabetes might be hesitant to leave them in someone else’s care for an extended period, but there are ways to ensure that everyone is prepared for a safe experience.
Current Type 1 Diabetes management guidelines recommend adjusting insulin doses for food based on the amount of carbohydrate eaten at each meal.