Maiella S, Rath A, Angin C, Mousson F, Kremp O
Orphanet-INSERM US14, Plateforme Maladies Rares, 96 rue Didot, 75014 Paris, France.
Rev Neurol (Paris). 2013 Feb;169 Suppl 1:S3-8. doi: 10.1016/S0035-3787(13)70052-3.
There are approximately 6000 rare diseases, and 80% of them are genetic. In Europe, a disease is considered rare when it affects no more than one person in 2000. In France, two to three million people are affected, while nearly 30 million others are affected across Europe (5-8% of the whole European population). The majority of rare diseases are poorly understood by health professionals. Due to the lack of sufficient scientific and medical knowledge, many patients are misdiagnosed, which results in delays in care that can be harmful. Because many rare diseases are often associated with neurological manifestations, the neurologist in his daily practice may often encounter these complex diseases that require special care as well as a multidisciplinary approach. Orphanet is the reference portal for rare diseases. Freely accessible on the Internet, it is a non-profit service officially supported by the French Ministry of Health and the European Commission. Its mission is to keep healthcare professionals and patients informed and, by so doing, it contributes to improvements in the diagnosis and treatment of rare diseases. It is currently the only project that establishes a link between diseases and any published information concerning them, and the appropriate services for patients as well as healthcare professionals. Orphanet is currently the most comprehensive site in terms of referenced and documented data, and it has in just a few years become the global reference portal for rare diseases and orphan drugs for all audiences. Orphanet generates a million page views per month. The site is available in six languages (English, French, Spanish, Italian, German and Portuguese) and offers a range of services, including: an inventory, classification and peer-reviewed encyclopedia of rare diseases along with the associated genes (more than 2000 diseases with neurological manifestations are described); a diagnostic support tool; clinical and emergency guidelines; a directory of specialised services in 37 partner countries; an encyclopedia aimed at the general public; an inventory of orphan drugs; downloadable thematic studies and reports on such subjects as the prevalence of rare diseases, orphan drugs, aids and services for patients; and numerous links to other sources of information. Five to ten new rare diseases are described every month, which represents a major challenge for health professionals in terms of keeping their knowledge up to date. The Orphanet website content is expert-validated and updated continuously to respond in real time.
大约有6000种罕见病，其中80%是遗传性的。在欧洲，当一种疾病在2000人中影响不超过一人时，就被视为罕见病。在法国，有200万至300万人受到影响，而在欧洲其他地区，近3000万人受到影响（占整个欧洲人口的5%-8%）。大多数罕见病卫生专业人员了解甚少。由于缺乏足够的科学和医学知识，许多患者被误诊，导致治疗延误，这可能是有害的。由于许多罕见病通常伴有神经学表现，神经科医生在日常工作中可能经常遇到这些需要特殊护理以及多学科方法的复杂疾病。“孤儿病网”（Orphanet）是罕见病的参考门户网站。它可在互联网上免费访问，是一项由法国卫生部和欧盟委员会官方支持的非营利性服务。其使命是让医疗保健专业人员和患者了解情况，通过这样做，它有助于改善罕见病的诊断和治疗。它是目前唯一一个在疾病与任何有关它们的已发表信息以及为患者和医疗保健专业人员提供的适当服务之间建立联系的项目。就参考和记录的数据而言，“孤儿病网”目前是最全面的网站，并且在短短几年内已成为面向所有受众的全球罕见病和孤儿药参考门户网站。“孤儿病网”每月有100万页面浏览量。该网站有六种语言版本（英语、法语、西班牙语、意大利语、德语和葡萄牙语），并提供一系列服务，包括：罕见病及其相关基因的清单、分类和经过同行评审的百科全书（描述了2000多种有神经学表现的疾病）；诊断支持工具；临床和急救指南；37个伙伴国家专门服务目录；面向公众的百科全书；孤儿药清单；关于罕见病患病率、孤儿药、艾滋病和患者服务等主题的可下载专题研究和报告；以及与其他信息来源的众多链接。每月会描述5至10种新的罕见病，这对卫生专业人员来说是一项重大挑战，因为要跟上知识更新。“孤儿病网”网站内容经过专家验证并不断更新以实时响应。
