Rare diseases affect 30 million people in the USA and more than 300–400 million
worldwide, often causing chronic illness, disability, and premature death. Traditional …

Collectively, rare genetic disorders affect a substantial portion of the world's population. In
most cases, those affected face difficulties in receiving a clinical diagnosis and genetic …

Families with rare diseases (RDs) have unmet needs that are often overlooked by health
professionals. Describing these needs and the impact of the disease could improve their …

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 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 Rare disease patients often experience diagnosis delays or misdiagnosis,
which may be due to lack of knowledge on rare diseases among physicians. Objective To …

Background Pompe disease (PD) is a rare inherited disorder caused by the deficiency of
acid-α glucosidase, which leads to the impairment of organ and tissue functions and causes …

Over the last decade, INFRAFRONTIER has positioned itself as a world-class Research
Infrastructure for the generation, phenotyping, archiving, and distribution of mouse models in …

Background There are about 7000 rare diseases worldwide, of which only 5% of the
diseases can be treated with medicines, showing that it's important to improve patient …

Background: The economic burden of Pompe disease (PD) is under-researched. This study
aimed to fill this gap and provide evidence-based suggestions for policy improvement based …