Developmental Endocrinology Research Group, Royal Hospital for Sick Children, Glasgow, UK.
Sex Dev. 2010 Sep;4(4-5):192-8. doi: 10.1159/000313434. Epub 2010 May 26.
Disorders of sex development (DSD) are a rare group of conditions which require further research. Effective research into understanding the aetiology, as well as long-term outcome of these rare conditions, requires multicentre collaboration often across national boundaries. The EU-funded EuroDSD programme (www.eurodsd.eu) is one such collaboration involving clinical centres and clinical and genetic experts across Europe. At the heart of the EuroDSD collaboration is a European DSD registry and a targeted virtual research environment (VRE) that supports the sharing of DSD data. Security, ethics and information governance are cornerstones of this infrastructure. This paper describes the infrastructure that has been developed, the inherent challenges in security, availability and dependability that must be overcome for the enterprise to succeed and provides a sample of the data that are stored in the registry along with a summary analysis of the current data sets.
性发育障碍（DSD）是一组罕见的疾病，需要进一步研究。有效研究这些罕见疾病的病因以及长期结果需要多中心合作，通常跨越国界。欧盟资助的 EuroDSD 计划（www.eurodsd.eu）就是这样一个合作项目，涉及欧洲的临床中心以及临床和遗传专家。EuroDSD 合作的核心是一个欧洲 DSD 注册中心和一个针对性的虚拟研究环境（VRE），支持 DSD 数据的共享。安全性、道德和信息治理是该基础设施的基石。本文描述了已开发的基础设施，以及为了使企业取得成功而必须克服的安全性、可用性和可靠性方面的固有挑战，并提供了存储在注册中心中的数据示例以及对当前数据集的摘要分析。
