For the first time in Europe hundreds of rare disease (RD) experts team up to actively share and jointly analyse existing patient’s data. Solve-RD is a Horizon 2020-supported EU flagship project bringing together >300 clinicians, scientists, and patient representatives of 51 sites from 15 countries. Solve-RD is built upon a core group of four European Reference Networks (ERNs; ERN-ITHACA, ERN-RND, ERN-Euro NMD, ERN-GENTURIS) which annually see more than 270,000 RD patients with respective pathologies. The main ambition is to solve unsolved rare diseases for which a molecular cause is not yet known. This is achieved through an innovative clinical research environment that introduces novel ways to organise expertise and data. Two major approaches are being pursued (i) massive data re-analysis of >19,000 unsolved rare disease patients and (ii) novel combined -omics approaches. The minimum requirement to be eligible for the analysis activities is an inconclusive exome that can be shared with controlled access. The first preliminary data re-analysis has already diagnosed 255 cases form 8393 exomes/genome datasets. This unprecedented degree of collaboration focused on sharing of data and expertise shall identify many new disease genes and enable diagnosis of many so far undiagnosed patients from all over Europe.

在欧洲，数百名罕见病 (RD) 专家首次联手积极共享和共同分析现有患者数据。 Solve-RD 是 Horizo​​n 2020 支持的欧盟旗舰项目，汇集了来自 15 个国家 51 个地点的 300 多名临床医生、科学家和患者代表。 Solve-RD 建立在四个欧洲参考网络（ERN；ERN-ITHACA、ERN-RND、ERN-Euro NMD、ERN-GENTURIS）核心组的基础上，每年接诊超过 270,000 名患有各自病症的 RD 患者。主要目标是解决尚未解决的罕见疾病，其分子原因尚不清楚。这是通过创新的临床研究环境实现的，该环境引入了组织专业知识和数据的新方法。目前正在寻求两种主要方法（i）对超过 19,000 名未解决的罕见病患者进行大量数据重新分析，以及（ii）新颖的组合组学方法。获得分析活动资格的最低要求是可以通过受控访问共享不确定的外显子组。第一次初步数据重新分析已从 8393 个外显子组/基因组数据集中诊断出 255 例病例。这种前所未有的专注于数据和专业知识共享的合作将识别出许多新的疾病基因，并能够诊断来自欧洲各地的许多迄今未确诊的患者。