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Correlation of clinic, genetic and epigenetic aspects implicated in the etiology of Prader Willi/Angelman syndromes: model of multidisciplinary approach for rare diseases in Romania

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

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

Editorial: Nature Publishing Group, European Journal of Human Genetics, Vol. 17 Supp 2, p.51, 2009.

Rezumat:

The purpose of this research is to establish the new hypotheses that
are responsible for Prader- Willi/Angelman syndromes. Our study has
as objectives the implementation of new molecular methods for genetic/
epigenetic investigation and establishment of national centers
with high expertise in approaching the two syndromes, the rare genetic
diseases that will develop educational reference and release centers.
We also aim to evolve efficient partnership with patients associations
through specific modalities like dialogue. The power of these associations
will propel the research, will inform the patients and will respond
to civil society questions. The study will establish international collaboration
and partnerships with researchers having similar scientific interest,
establish partnerships with PWS-Organizations, IPSWO, research
groups from each country aiming financial support on programs that
intend to stimulate collaboration between specialists, researchers and
nongovernmental organizations. Finally, we aim to develop a multidisciplinary
partnership, to build a common platform of activities for
new innovative solutions in respect to rare disease needs. These new
bridges of real and effective collaboration will ascertain on the national
level the setting up of a solid network comprising institutions with high
expertise in this domain, well connected to other national or international
research networks. The results of the research will be published
in well-known journals with high impact factors for enlargement of Romanian
research visibility in international domain of rare diseases. In
conclusion our project aims to implement in Romania the European
model of the network for rare diseases research, model adapted with
success in management of these diseases.

Cuvinte cheie: uman, genetica // human, genetics

URL: http://www.eshg.org/eshg2009/download.htm