Rett syndrome (RTT) is a neurological and developmental disorder, affecting 1 in 12 girls (NHS) with no cure to date. This syndrome is classified as rare, however it is of great international interest as RTT is used as a model to study a multitude of brain disorders and to test novel treatments. This disorder causes severe communication and motor dysfunction in patients, with varying symptom severity between cases. In order to promote awareness of RTT patients in Ireland, and to further cultivate RTT research collaboration internationally, we intend to work with Rett Syndrome Foundation of Ireland (RSI) to gather data from Irish RTT patients. RSI has compiled a questionnaire, to be completed by families involved in the foundation. The data will then be collected and made anonymous by the RSI and sent to us in Trinity College Dublin (TCD) for analysis. This research will lead to the initiation of an international collaboration and communication between patient associations, such as RSI, and scientists. This work will accelerate RTT research on an internationally and, as a result, encourage increased research in related disorders. Overall, resulting in a life-challenging effect on the lives of patients and their families.
