...Bibiana Mello de Oliveira; Mariane Barros Neiva; Isabelle Carvalho; Ida Vanessa Doederlein Schwartz; Domingos Alves; Temis Maria Felix; Raras Network Group Introduction: The Brazilian Policy for Comprehensive Care for People with Rare Diseases (BPCCPRD) was published in 2014, accrediting several...

... factors for premature mortality. Conclusion: GD is a rare disease with a high mortality rate, if left untreated. ERT and SRT are the definitive treatments which increase the survival. In resource-limited settings like India, with higher prevalence of the neuronopathic type, HSCT may be a more suitable...

... and providing prevalence estimates of rare CAs using the Registry of Rare Diseases as an added data source to the Registry of Congenital Anomalies. Methods: Cases of diagnosed rare CAs (2006-2013) were extracted from the Tuscany Registry of Rare Diseases and the Tuscany Registry of Congenital Anomalies in order...

... and the editor(s) disclaim responsibility for any injury to persons or property resulting from any ideas, methods, instructions or products referred to in the content or advertisements. Genetic services Access Community genetic services European Commission Genetic disorders Rare diseases...

... networks (ERNs). These ERNs are meant to ease the access of patients to highly specialized health care and to facilitate the cooperation at the European Union level in particular medical domains where expertise is scarce, especially in the rare disease area. Methods: The Directive 2011/24/EU [OJEU 2011...

.... European network Health policy Molecular genetics Rare diseases Registries Service delivery X-linked mental retardation Rett syndrome (RTT) is a rare neurodevelopmental disorder, which predominantly affects females. It results from a genetic mutation on the X chromosome, several forms...

...Domenica Taruscio; Alberto Mantovani; Pietro Carbone; Ingeborg Barisic; Fabrizio Bianchi; Ester Garne; Vera Nelen; Amanda Julie Neville; Diana Wellesley; Helen Dolk Primary prevention of congenital anomalies was identified as an important action in the field of rare diseases by the European...

... Reference Networks, union-wide information databases, and registries for rare diseases (RDs) based on shared criteria. In pursuing its goals, the ‘Building Consensus and Synergies for the EU Registration of RD Patients in Europe' (EPIRARE) project convened a meeting with experts of the competent health...

...A. Montserrat Moliner; J. Waligóra Background: Rare diseases (RDs), including those of genetic origin, are defined by the European Union (EU) as life-threatening or chronically debilitating diseases, which are of low prevalence (fewer than 5 per 10,000). The specificities of RDs - a limited number...

...L. Vittozzi; S. Gainotti; E. Mollo; C. Donati; D. Taruscio Background: The current situation of rare disease (RD) registries is rather heterogeneous, and new ways to support the registration of RD patients are being sought in the European Union (EU) and the US. The project ‘Building Consensus...

...D. Taruscio; S. Gainotti; E. Mollo; L. Vittozzi; F. Bianchi; M. Ensini; M. Posada Background: Registries are considered key instruments for developing rare disease (RD) clinical research, enhancing patient care and health planning, and improving social, economic and quality-of-life outcomes. Indeed...

...D. Taruscio; A.E. Gentile; M. De Santis; R.M. Ferrelli; M. Posada de la Paz; M. Hens; J. Huizer; L. Fregonese; R. Stefanov; V. Bottarelli; A. Weinman; Y. Le Cam; D. Gavhed; P. Mincarone; K. Bushby; R.G. Frazzica; C. Donati; L. Vittozzi; E. Jessop Background/Aims: National Plans for Rare Diseases...

...A. Ferlini; C. Scotton; G. Novelli Background: Nowadays 7,000 rare diseases (RDs) have been identified with a prevalence less than 5/10,000. Despite of the enormous effort the European Union (EU) has already invested in this field, still 4,000 RDs remain orphan of genetic diagnosis and causative...