… into rare diseases research. The European Union (EU) has put much effort into funding …
in rare diseases research is key to improve the life of people living with a rare disease. …

… of disease progression through more and better natural history studies. This is an important
… approval of orphan drugs to treat rare diseases and its member organizations can directly …

… use of different information sources for specific rare diseases, little is known about the use of
information sources for different rare diseases, … , and how the use and importance of these …

… The total number of rare diseases … rare disease at some stage in their life. Overall, 25 million
North Americans and 30 million Europeans are estimated to be suffering from a rare disease …

… In the field of rare diseases (RDs), the evidence standard is often lower than that required …
In this commentary, we propose that appropriate economic evaluation for rare disease …

… disease [27]. In particular, case reports occupy an important place in the investigation of rare
diseases… – genetic conditions that are currently categorized as “rare” (the topic of this book), …

… In considering each of these issues, I submit that generalizable observations emerge from
experience with AATD, an important rare disease for which substantial progress has been …

… We also discuss a recent FDA guidance for using RWE in supporting rare disease drug …
play an important role in supporting regulatory decision making for rare diseases. Common …

… rare disease context. This scoping review aims to address this gap and explores the use of
machine learning in rare diseases, … treatment of rare diseases is therefore an important public …

… This section discusses the importance of data sharing for rare disease, across the
research lifecycle, from diagnosis and basic research, to clinical trial transparency, to health …