National Registries of Rare Diseases in Europe: An Overview of the Current Situation and Experiences

被引：31

作者：

Taruscio, Domenica ^{[1
]}

Vittozzi, Luciano ^{[1
]}

Choquet, Remy ^{[2
]}

Heimdal, Ketil ^{[5
]}

Iskrov, Georgi ^{[6
]}

Kodra, Yllka ^{[1
]}

Landais, Paul ^{[3
,4
]}

Posada, Manuel ^{[7
,8
]}

Stefanov, Rumen ^{[6
]}

Steinmueller, Christiane ^{[9
]}

Swinnen, Elfriede ^{[10
]}

Van Oyen, Herman ^{[10
]}

机构：

[1] NIH, Natl Ctr Rare Dis, Rome, Italy

[2] Necker Enfants Malad Hosp, Paris, France

[3] Univ Nimes Hosp, F-30006 Nimes, France

[4] Univ Montpellier, Fac Med, F-34059 Montpellier, France

[5] Oslo Univ Hosp, Dept Med Genet, Oslo, Norway

[6] BAPES, Plovdiv, Bulgaria

[7] ISCIII, Inst Rare Dis Res, Madrid, Spain

[8] CIBERER, Madrid, Spain

[9] DLR Project Management Agcy, Bonn, Germany

[10] Sci Inst Publ Hlth, Brussels, Belgium

来源：

PUBLIC HEALTH GENOMICS | 2015年 / 18卷 / 01期

关键词：

Epidemiology; EPIRARE; Public health; Rare diseases; Registries;

D O I：

10.1159/000365897

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

The European Union (EU) policy for healthcare requires the establishment of a system of 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 authorities to discuss the role of national institutional RD patient registries in supporting EU patient registration and the room for international cooperation. With this aim, this paper comparatively analyses the current situation of national institutional RD registries in the EU. (C) 2014 S. Karger AG, Basel

引用

页码：20 / 25

页数：6

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