Importance and Potential of Rare Disease Research in Pediatric Rheumatology and Beyond: Pushing Frontiers.

ABSTRACT: Although individually occurring in less than 1 in 2,000 people, cumulatively, more than 7,000 rare diseases affect approximately 6% of the population worldwide. Children and young people are disproportionally challenged in number and severity, which may be explained by the large proportion of genetic conditions among rare diseases (70%-80%). Indeed, an estimated 30% of children with rare diseases do not survive past their fifth birthday. Because rare diseases are frequently missed or diagnosed with a delay of several years and <5% of rare diseases have a licensed treatment, the impact of rare diseases on the indivual affected (independent of age) and wider society is significant. To address these challenges sufficiently, rare disease expert centers combining research activity with patient

SUBMITTER: Hedrich CM 

PROVIDER: S-EPMC12657117 | biostudies-literature | 2025 Dec

REPOSITORIES: biostudies-literature