Problem Rare diseases are any disease affecting fewer than five people in 10,000. More
than 8000 rare diseases and 50–75% of all rare diseases affect children. The purpose of this …

Patient involvement (PI) in determining medical research priorities is an important way to
ensure that limited research funds are allocated to best serve patients. As a disease area for …

Objective To systematically identify and describe approaches to prioritise primary research
topics in any health-related area. Methods We searched Medline and CINAHL databases …

Abstract Introduction This study implemented MendelScan, a primary care rare disease case-
finding tool, into a UK National Health Service population. Rare disease diagnosis is …

Background Rare diseases are an often chronic, progressive and life-limiting group of
conditions affecting more than 30 million people in Europe. These diseases are associated …

Background Although stakeholder involvement in policymaking is attracting attention in the
fields of medicine and healthcare, a practical methodology has not yet been established …

Background Patients' involvement (PI) in research is recognized as a valuable strategy for
increasing the quality, developing more targeted research and to speed up more innovative …

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

Information on the experiences of parents whose children have rare or undiagnosed
conditions is lacking in Ireland. It can be hypothesised that these parents experience a …

Inequity in health care is a multifaceted complex global issue not unique to rare disease.
Grouping countries into one unified entity is imperfect without a combined political‐strategic …