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PRESENTATION LETTER

A.I.R. (Associazione Italiana Rett) and RSE (Rett Syndrome Europe) are the organizers of the 1st European Congress on Rett Syndrome, with an overview from research to treatment, focusing on new perspectives about this topic.

We will dedicate the first day to doctors and researchers employed on Rett Syndrome; starting with an historical overview and developing genetic inputs towards diagnosis and research of correlations between known genotypes and phenotypes; at 6 p.m. parents will have the chance of getting direct answers to their questions by specialists, after a summary of the topics treated during the whole day.

Geneticists will propose a research update about peculiar complexity of this ailment, including the modern involvement of three different genes, with numerous modalities.
With clinicians, we will examine how, while the clinic symptom nucleus shows a constant and specific trend, the expressivity and the gravity of patterns can change relevantly, from an important congenital and global compromising situation to an initial proper development followed by a mental and motor regression, motor troubles in highly invalidating situations, absence of any communication to preserve the language, complete absence of social signs and pharmacoresistant epilepsy.
Reported news speak of the difficult connection between genetic comparison and clinical manifestations, evolution and prognosis, advancement of animal experimentation, new meaningful therapeutic hopes.
Basic sciences and translational researches contribute to the progress of knowledge in this difficult context, with an open challenge in the next future.

The 2nd day is focused on decidedly improving the taking up of our "little girls with beautiful eyes".

We privileged the ambits where dedicated professionals, basing on their experience and their specific researches, communicate the epilepsy art status, pharmacological treatments, management of behaviour troubles, modern contribution of increasing communication, management of nutritional troubles, of osteoporosis and scoliosis.
Numerous skilled Centres matured knowledge including, and sometimes anticipating, a lot of problems that can appear in the future and result determinant for the evolution of single conditions.
Their work is very important for all children and families involved and promote a different operative way, with another challenge to the future.
At 6 p.m. we will have a synthesis of works and experts will be available to answer to parents questions directly.
The 3rd day will be split in more parts. The first part, setting the Rett Syndrome in rare diseases, will focus all that today Europe and Italy are organizing to improve sanitary practices in Rare Diseases context.
Spokesmen are professionals with high responsibility in this area. They present interesting information about basic principles and about actions in progress for the development of researches and charitable modalities to all affections, that due to their low incidence, need peculiar actions in Countries and World Health Organization.
Then, some members of the European Scientific Committee will present interesting innovative proposals, focusing on the construction of a European Database and reinforcement of European Scientific Co-ordination.
Reserving a specific place to RSE planning will constitute a constructive conclusion for the Congress.
After that, AIR meeting will take place for the increase of donations and re-programming of pertaining activities.
The Congress is for us an important chance for encountering and programming charitable researches and for the progress of operative modalities, projected towards a modern taking up, effective and focused on the future of our little girls.

Scientific Committee
Prof. Edvige Veneselli