Background Individuals with rare diseases may face challenges that are different from those
experienced in more common medical conditions. A wide range of different rare conditions …

Aims and objective To explore the experience of adult patients and adult patients' families,
and their perception of the support systems received during the diagnostic process of rare …

A disorder is considered a rare disease if it affects 1 in 2000, hence, while independently
unique, collectively, these conditions are quite common. Many rare diseases are diagnosed …

Background The number of market approvals of orphan medicinal products (OMPs) has
been increasing steadily in the last 3 decades. While OMPs can offer a unique chance for …

Genomic and gene‐targeted therapies hold great promise in addressing the global issue of
rare diseases. To achieve this promise, however, it is critical the twin goals of equity in …

This exploratory study aimed to gain an understanding of carer reported experiences
derived specifically from persons caring for someone with a rare disease. The survey took …

Background Rare disease patients and caregivers face uncommon, serious, debilitating
conditions often characterised by poor prognosis and limited treatment options. This study …

Rare diseases face serious sustainability challenges regarding the distribution of resources
geared at health and social needs. Our aim was to describe the barriers experienced by …

Background Finding reliable information on one of more than 7000 rare diseases is a major
challenge for those affected. Since rare diseases are defined only by the prevalence …

Rare diseases, defined as having a prevalence inferior to 1/2000, are poorly understood
scientifically and medically. Appropriate diagnoses and treatments are scarce, adding to the …