Biological samples such as tissues, blood and other body fluids, plants or seeds, prokaryotic
and eukaryotic cells or isolated biomolecules as well as associated data are the essential …

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

Introduction: This article is part of the Focus Theme of Methods of Information in Medicine on
the German Medical Informatics Initiative. Similar to other large international data sharing …

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 …

Today policy makers face the challenge to devise a policy framework that improves orphan
medicinal product (OMP) development by creating incentives to deliver treatments where …

Introduction: The Minimum Information About BIobank data Sharing (MIABIS) was initiated in
2012. MIABIS aims to create a common biobank terminology to facilitate data sharing in …

Although individually uncommon, rare diseases (RDs) collectively affect 6–8% of the
population. The unmet need of the rare disease community was recognized by the …

Collectively, rare genetic disorders affect a substantial portion of the world's population. In
most cases, those affected face difficulties in receiving a clinical diagnosis and genetic …

Background The worldwide landscape of patient registries in the neuromuscular disease
(NMD) field has significantly changed in the last 10 years, with the international TREAT …

Background knowledge on the natural history of rare diseases is necessary to improve
outcomes. Disease registries may play a key role in covering these unmet needs in the rare …