A Escola Bahiana de Medicina e Saúde Pública is among the Brazilian institutions that make up the National Network of Rare Diseases (RARAS), a multicenter research project, funded by CNPq and the Ministry of Health (DECIT), which aims to carry out, for the first time in the country's history, a national survey (census) on frequency, clinical status, diagnostic and therapeutic resources and related costs to individuals with rare diseases of genetic and non-genetic origin.
Na Bahiana, this project is being developed in the Neuromuscular Diseases and Genetics Clinics at Bahiana Health, under the coordination of Prof. Marcela Machado Costa, deputy coordination of Prof. Marilaine Menezes and the participation of four PIBIC/CNPQ scholarship students, two students from the Nursing course and two from the Medicine course.
In general, the research aims to consolidate a national network of rare diseases with the participation of the Reference Services for Rare Diseases (SRDR), University Hospitals (HUs) and Reference Services for Neonatal Screening, covering all regions of Brazil; collect epidemiological, clinical and therapeutic data, establishing a national registry of RD in order to provide parameters for studies of the natural history of the disease, disease burden, real-life effectiveness, cost-effectiveness and budgetary impact.
These diseases are individually rare. However, they collectively affect 8% to 10% of the population, representing a significant impact on public health. They are chronic, debilitating diseases that affect the quality of life of individuals and their families.
Despite advances in diagnosis, mainly due to new technologies and the recent structuring of RD care in Brazil, there is still a lack of epidemiological data on these conditions and these, when available, are restricted to specific diseases. Therefore, in this regard, the national survey will be of great value, as it will bring important information about the profile of these diseases, expanding knowledge about the epidemiology, clinical picture, diagnostic aspects and therapeutic itineraries, making it possible to adequately guide resources and attend regional needs, in addition to optimizing the implementation of the National Policy for Care for People with Rare Diseases in Brazil.