People living with rare diseases (PLWRD) still face huge unmet needs, in part due to the fact
that care systems are not sufficiently aligned with their needs and healthcare workforce …

Background During their studies, future physicians are often taught that while evaluating a
patient they should first consider a common diagnosis and not a rare one. Consequently …

Purpose Rare disease diagnosis is challenging in medical image-based artificial
intelligence due to a natural class imbalance in datasets, leading to biased prediction …

Background: Rare diseases (RDs) affect millions of individuals collectively worldwide,
contributing to significant burdens on patients and families in various aspects. However …

Although national plans or strategies for rare diseases (RDs) have been implemented in
many jurisdictions research show that one of the main barriers RD patients face during …

Background Haemophilia A is a rare, hereditary haemorrhagic disease that manifests as
induced spontaneous bleeding and leads to disability or premature death in severe cases …

Background There are over 16.8 million rare disease patients in China, representing a large
community that should not be neglected. While the public lack the awareness of their …

In a two-study project, researchers used qualitative methods and inductive thematic
analyses to investigate the lived awareness-and advocacy-related experiences of 27 adults …

Background Rare diseases are serious and chronic diseases that affect no more than 1
person in 2000 (in European Union criteria). Patients suffering from RDs may come to the …

Background The nature of student learning in problem-based learning (PBL) largely
depends on the quality of the case scenarios presented to them. The effect of case scenarios …