Orphan and rare diseases: Global prevalence in genomic era

Orphan and rare diseases present a significant healthcare challenge due to their low occurrence rates, often affecting less than 1 in 2,000 individuals in Europe. The scarcity of these conditions complicates research and treatment efforts, as pharmaceutical companies find it difficult in investment of resources and man power thus resulting in a lack of effective therapies (1). However, with the advancements in genomics and personalized medicine, new opportunities have emerged for understanding and managing these diseases. Firms such as Orphanet and the National Organization for Rare Disorders (NORD) play vital roles in offering comprehensive support, information, and advocacy for individuals impacted by orphan and rare diseases. Orphanet serves as a European hub for rare disease and orphan drug information, furnishing detailed insights into disease classifications, associated genes, and clinical signs. Conversely, NORD provides a repository of rare disease data, along with avenues for financial and medical aid, as well as resources catering to patients, researchers, and healthcare providers in the world (2).