Rett syndrome is a serious, neurodevelopment disorder difficult to be managed and studied. It is typically characterized by a neurodevelopment regression starting at age 6 to 18 months after a normal early postnatal development. Patients experience a loss in the acquired abilities, such as speech and non-verbal communication, and many other symptoms, including, among others, a severe form of autism, loss of purposeful use of the hands, organic dysfunctions, apnea/hyperpnea, seizures. The disease, affecting 1 out of 10,000 persons, especially girls, is usually due to de novo mutations in the X-located gene MECP2.

At the Hospital Sant Joan de Déu, we have established a multidisciplinary working network between different professionals from the institution itself and external collaborators to approach the management and the study of this disease in different areas. Precisely, the intrinsic complexity of the disease makes interesting and necessary to study it in its different facets: the genetic mechanisms underlying it, the molecular pathways involved, the dysfunction in the synaptic metabolism, the alterations in neural communication network… The conjunction of the clinical activity with the research that this group produces allows us to focus our work on the direct benefit of the patients, thus enriching both clinical management and research in a mutual way.

The next day of June 17th it will take place in the Hospital Sant Joan de Déu an Updating Day of the work we are carrying out, with short talks dealing with all its aspects. The program includes explanations of the practice and the clinical experience with the Rett Syndrome, the research and the genetic diagnosis, the study of brain maps, the search for new therapeutic targets… Aimed especially at families and patient associations, it is an open event of interest to anyone who wants to learn more about this disease and the approach from different perspectives of the Rett Syndrome, such as researchers or students of Medicine. With the objective of consolidating in a day the update of the work we are carrying out in different fields, this will be a dynamic event in which it will be generated the opportunity to ask and discuss any doubts about it.

 

 

WHAT: Updating Day of the research carried out on the Rett Syndrome by the HSJD and its external collaborators

WHEN: Saturday, June 17th from 10 a.m. to 6 p.m.

WHERE: Sant Joan de Déu Hospital, Edifici Docent (Esplugues de Llobregat, Barcelona)

Streaming broadcast.

REGISTRATION: Send an email to aldeoyarzabal@fsjd.org

 

 

The elaboration of this post has been financed by the project PI15/01082, as a part of the National Plan of I+D+I and co-financed by the ISCIII – General Deputy Direction for Evaluation and Development of Health Research – and the European Regional Development Fund (ERDF).