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 …

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 …

While genetics constitutes an important part of medical education, one can observe a lack of
knowledge about rare diseases (RD) among medical students and healthcare professionals …

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 With the growing adoption of the electronic health record (EHR) worldwide over
the last decade, new opportunities exist for leveraging EHR data for detection of rare …

Background Rare diseases are a priority objective for public health systems. Given its
complexity, late and misdiagnoses occur very often which causes mental and physical …

Caring for patients suffering from a rare disease (RD) requires the special and combined
efforts of different healthcare professionals, including nurses, physiotherapists and …

Background The diagnosis of the rare genetic diseases has great importance in treating
multisystemic conditions, preventing potential complications, and estimating disease risk for …

Rare diseases (RDs) affect up to 8% of the world's population, and unfortunately, health
professionals have a low level of knowledge regarding the impacts of RDs on the social …

Background The treatment of rare diseases in contemporary health systems appears to be
steadily gaining in importance, especially as the number of their occurrence is increasing …