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A new approach concerning the registries for rare diseases

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

Autori: A. Tarniceru, M. Puiu, M. Serban;

Editorial: nature publishing group, European journal of human genetics, Volume 16 Supplement 2 May 2008, p.388, 2008.


The registries for rare diseases follow to obtain epidemiological information useful to understand the dimension of the problem. Knowing the prevalence of rare diseases is an essential aspect for establishing the most adequate methods for detection, prevention and management to guide the health policy and the need for specialized personnel in different regions. In addition the registries for rare diseases represent data bases useful for research. It is necessary to ask for a well-informed consent which will allow using the recorded data in registers and also for future researches. The informed consent must be obtained after a previous preparation and notification of the patient and/or his family. In this way they will have all the information connected to the research in which they are involved: results, risks, limits and benefits.
The registries for rare diseases have to be adapted, the criteria and the tracking data have to be standardized in all European countries in order to have as many cases possible. For this reason it is absolutely necessary to create a new codification system approved by all countries, which will encode all known rare diseases.

Cuvinte cheie: registre, boli rare // registries, rare diseases