The International Rare Diseases Research Consortium (IRDiRC) was founded in 2011 with
the conviction that rare diseases research had reached a critical juncture. Proof of principle …

Rare diseases by definition are conditions that affect small numbers of people. The
prevalence threshold that designates a disease as rare varies in different countries …

Background Successful development of new treatments for rare diseases (RDs) and their
sustainable patient access require overcoming a series of challenges related to research …

We now live in a time of unprecedented opportunities to turn scientific discoveries into better
treatments for the estimated 30 million people in the US living with rare diseases. Despite …

Over the last two decades, important contributions were made at national, European and
international levels to foster collaboration into rare diseases research. The European Union …

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

Most rare diseases still lack approved treatments despite major advances in research
providing the tools to understand their molecular basis, as well as legislation providing …

A lack of robust knowledge of the number of rare diseases and the number of people
affected by them limits the development of approaches to ameliorate the substantial …

Research into rare diseases is typically fragmented by data type and disease. Individual
efforts often have poor interoperability and do not systematically connect data across clinical …

Background Evidence-based clinical practice is challenging in all fields, but poses special
barriers in the field of rare diseases. The present paper summarises the main barriers faced …