SESSIONS
Expertise and resources for rare diseases (RD) are scarce and scattered, making information difficult to access. Orphanet (www.orpha.net), the European portal for RD, was developed to provide solutions to these problems.
A peer-reviewed encyclopaedia on RD, with abstracts available in five European languages, remedies the problem of information dispersion. A RD nomenclature, cross-referenced with other terminologies, provides a reliable tool to trace the impact of RD on morbidity and mortality in electronic information systems. A tool combining up to five signs and symptoms assists physicians diagnosing RD. To quickly access expert RD resources, an up-to-date directory of clinics and clinical laboratories in 38 countries is provided. Quality management data for clinical laboratories are gathered in partnership with EuroGentest (www.eurogentest.org). Information on ongoing national and European-level funded research projects facilitates collaboration between researchers. A patient organisation directory and a service facilitating contact between isolated patients combat patient solitude. To support RD stakeholders and policy-makers, Orphanet reports new political and scientific developments via a free-access electronic twice-monthly newsletter (10,000-plus subscribers) and via the regularly updated “Orphanet Report Series” collection including themes as “Prevalence of RD” or “Orphan Drugs”.
Orphanet, fully accessible to disabled users, is adapted to the needs of its users, of whom 2/3 are professionals and 1/3 patients and families.
Making Orphanet available in all 22 EU languages needs to be considered as many users are unable to use the five-language version.
Electronic services developed by Orphanet and other EU funded projects (Dyscern, Ecorn-CF), demonstrate how e-technologies put patients in contact with other patients, allow research groups to share data, gather data for clinical research, register patients for clinical trials, and submit cases to experts to improve the quality of diagnosis and treatment.
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Biography
Dr Ana Rath is a medical doctor specialized in general surgery. She worked as a researcher during 9 years at the University of Paris XIII, in clinical research and experimental surgery. She obtained a Master of Philosophy at the University of Paris-Sorbonne and dedicated herself to the scientific edition for paper and electronic journals afterwards. She joined Orphanet in 2005 as Head of the Editorial and the Rare Diseases Database departments.
