Rare diseases (RD) patient registries are powerful instruments that help develop clinical
research, facilitate the planning of appropriate clinical trials, improve patient care, and …

Background Given the increased availability of data sources such as hospital information
systems, electronic health records, and health-related registries, a novel approach is …

Abstract The General Data Protection Regulation (GDPR) came into force in May 2018. The
aspiration of providing for a high level of protection to individuals' personal data risked …

Background The needs and benefits of sharing health data to advance scientific research
and improve clinical benefits have been well documented in recent years, specifically in the …

Abstract The International Rare Diseases Research Consortium (IRDiRC) has agreed on
IRDiRC Policies and Guidelines, following extensive deliberations and discussions in 2012 …

The time required to reach a correct diagnosis is a key concern for rare disease (RD)
patients. Diagnostic delay can be intolerably long, often described as an “odyssey” and, for …

Objective: By definition a rare disease affects fewer than 1 in 2,000 people but collectively 1
in 17 people are affected at some time in their lives. Rare disease patients often describe …

Although big-data research has met with multiple controversies in diverse fields, political
and security implications of big data in life sciences have received less attention. This paper …

In rare disease (RD) research, there is a huge need to systematically collect biomaterials,
phenotypic, and genomic data in a standardized way and to make them findable, accessible …

Abstract Background Rare Disease research has seen tremendous advancements over the
last decades, with the development of new technologies, various global collaborative efforts …