Scopul nostru este sprijinirea şi promovarea cercetării ştiinţifice şi facilitarea comunicării între cercetătorii români din întreaga lume.
Autori: M. Puiu, D. Dan, C. Skrypnyk
Editorial: nature publishing group, European journal of human genetics, Volume 15 Supplement 1 June 2007, p.340, 2007.
Introduction In the absence of a national governmental strategy for Rare Diseases (RD), an EU priority for Romania, the collaboration of local and national NGOs and medical specialists is essential. The aim of our paper is to focus on the encouragement of a collaborative effort between Higher Education Medical Universities, medical specialists, and NGOs serving beneficiaries in the RD sector through a multidisciplinary approach.
Results Families of children with RD have interacted with medical specialists and benefited by becoming more assertive and by achieving more developmental milestones. APWR has established contacts with a Genetic Lab and renewed the contact with Mauro Baschirotto, Institute for Rare Diseases and established new relationships with genetics specialist which helped us to diagnosed the patients in important genetics Institute and laboratories: Institute of Medical Genetics from Zurich, Institute of Human Genetics- Wurzburg, Institute of Clinical Genetics, Olgahospital-Stuttgart, Genetic Lab. Organized a training course for parents, genetic evaluating for children, a training course in genetics for family doctors, under auspicious of the Medical University, Timisoara.
Conclusions The health of people with disability and the social integration can be improved if they have every opportunity to enjoy family life, education, friendship, access to public facilities and freedom of movement. Action should be aimed at collaboration between medical specialists, families, and NGOs. Developing awareness about the needs of children with RD and engaging public in a shared strategy for the development of genetic services, will ensure a collaborative international approach in sharing of expertise and experience.
Cuvinte cheie: boli rare, consiliere genetica, colaborare ONG // Rare Diseases* genetic counseling* NGO collaboration