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We used multiplex ligation-dependent probe amplification to examine the MECP2 gene sequences in 149 girls and 1 boy.
Novel findings in relation to genotype
We reviewed literature and RettNet to explore firsthand perspectives of gastrointestinal issues in Rett Syndrome, then developed recommendations with experts.
We wanted to describe the range and variability in the expression of symptoms in girls and women with Rett syndrome.
We set out to describe the feeding difficulties and nutrition of girls with Rett syndrome and to examine what factors may be influencing their nutrition.
Our Centre is involved with a wide range of research projects, many involving collaborating with partners to run trials of new technologies and treatments.
Using a large sample size, we investigated the relationships between epilepsy and genotype, and the impact of medications used on seizure management.
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.
Read about Professor Tim Jones and Associate Professor Liz Davis, co-directors of the Children's Diabetes Centre.
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