Abstract Background Rare diseases (RDs) are often complex, serious, chronic and multi-
systemic conditions, associated with physical, sensory and intellectual disability. Patients …

Rare diseases (RDs) are serious, often chronic, progressive, degenerative and associated
with comorbidities, substantially affecting quality of life. Integrated care is essential to ensure …

Background Calls have been made for governments to adopt a cohesive approach to rare
diseases through the development of national plans. At present, Australia does not have a …

Abstract Background In 2017, the European Commission has launched the European
Reference Networks (ERNs), virtual networks involving healthcare providers across Europe …

Background Many people living and working with rare diseases describe consistent
difficulties accessing appropriate information and support. In this study an evaluation of the …

Background: Rare diseases are individually rare, but collectively these conditions are
common. Research on rare diseases are currently focused on disease-specific needs rather …

Background According to rough estimates, there are approximately 150,000 rare disease
patients in Slovenia (out of a total population of 2 million). Despite the absence of accurate …

Abstract Background Rare disease registries (RDRs) facilitate monitoring of rare diseases
by pooling small datasets to increase clinical and epidemiological knowledge of rare …

Introduction Improving care coordination for people with rare conditions may help to reduce
burden on patients and carers and improve the care that patients receive. We recently …

Abstract Background Rare diseases (RDs) affect approximately 8% of all people or> 400
million people globally. The Australian Government's National Strategic Action Plan for Rare …