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New hypotheses in PWS/AS research: a multidisciplinary approach of rare diseases in Romania

Domenii publicaţii > Ştiinţe medicale + Tipuri publicaţii > Articol în revistã ştiinţificã

Autori: M. Puiu, M. Serban, N. Cucu, G. Anton, D. Dan, C. Popoiu, C. Rusu, V.Pop, C. Badiu

Editorial: nature publishing group, European journal of human genetics, Volume 16 Supplement 2 May 2008, p.133, 2008.


SPW and SA are two clinical, metabolic and neurological different syndromes with 1 case for 15000 new born. The molecular mechanisms identified imply large deletions, uniparental disomia (DUP), intragenic and epigenetic modifications in the processes of imprinting and only rare balanced translocations. The actual studies have extended the area of epigenetic modifications, involving chromatin dynamic structure through covalent modifications of their components. A group of researchers from medical centers of Romania together with APWR suggests studying new etiological hypotheses of PWS/AS.
Since a small number of cases with SPW/SA do not integrate with the etiologies described by now our project have a great opportunity to discover new and interesting aspects. The project aims to follow in these patients aspects connected to environment, diet, pollution and way of life influence trying to solve the weak points of the correct imprinting process.
Knowing the epigenetic aspects from SPW/SA will allow a more precise etiological diagnosis, an adequate genetic counseling, avoiding recurrence of the disease, epigenetic therapies and an optimal management of these diseases. These objectives are doubled by the interest concerning rare diseases in generally and the opened research wants to be a beginning in the multidisciplinary approach of rare diseases in Romania.
We are proposing to contact some teams of European researchers with certain results in the study of PWS/AS to cooperate, with the purpose of deciphering the mechanisms involved in these diseases.

Cuvinte cheie: Sindromul Prader-Willi , Sindromul Angelman, boli rare // Prader-Willi Syndrome, Angelman Syndrome, rare diseases