Background The delay in diagnosis for rare disease (RD) patients is often longer than for
patients with common diseases. Machine learning (ML) technologies have the potential to …

BACKGROUND: In 2017, 24 European Reference Networks (ERNs) have been recognized
in order to improve rare diseases' management. However, a lack of practical information …

Background Emerging machine learning technologies are beginning to transform medicine
and healthcare and could also improve the diagnosis and treatment of rare diseases …

Background Patient registries and databases are essential tools for advancing clinical
research in the area of rare diseases, as well as for enhancing patient care and healthcare …

Notwithstanding two decades of policy and legislation in Europe, aimed to foster research
and development in rare conditions, only 5–6% of rare diseases have dedicated treatments …

A call from the EU for the set-up of European Reference Networks (ERNs) is expected to be
launched in the first quarter of 2016. ERNs are intended to improve the care for patients with …

Abstract With the Cross-Border Healthcare Directive (2011/24/EU) a mandatory framework
was established to foster cooperation on a voluntary basis, within European Reference …

Abstract Background In the European Union, a disease is defined as rare when it affects
fewer than 1 in 2000 people. Currently, there are up to 8000 described rare diseases (RDs) …

Background Although rare disease patients make up approximately 6–8% of all patients in
Europe, it is often difficult to find the necessary expertise for diagnosis and care and the …

Introduction Rare diseases affect approximately 350 million people worldwide. Delayed
diagnosis is frequent due to lack of knowledge of most clinicians and a small number of …