We act as custodian for the British Isles Rett Syndrome Survey (supported by Rett UK).
We undertake clinical and molecular genetics research into Rett syndrome and related disorders (such as the CDKL5-associated disorder).
Learn about the British Isles Rett Syndrome Survey
Our current clinical projects include a PhD project on behavioural aspects of the Rett syndrome phenotype, aging in Rett syndrome, and depression in adults with Rett syndrome.
We are also engaged in clinical molecular work which includes the recruitment of 20 patients with a classic Rett syndrome phenotype but no mutation in the MECP2 gene or other likely candidates.
By comparison of them with their parents using exomic analysis, we hope to identify otgher loci in which utations can give rise to a RTT phenotype.