A rare disease is defined as one that affects fewer than one in every 2,000 people, that causes a disability or risk of death, and that requires multidisciplinary treatment. Today, over 7,000 rare diseases have been identified, the majority of which are of genetic origin. In order to improve the treatment of patients affected by these diseases, it is essential to have access to accurate and useful data. It also involves directing professionals and patients to the appropriate institutions: appointments with specialists, patient associations, administrative and legal assistance, healthcare at home, etc.
The project consists of supporting and developing the partnership between the HUG and Orphanet, an international reference portal for information on rare diseases and orphan drugs. This enormous database, which receives daily contributions from 40 partner countries, includes a classification of rare diseases, a professional encyclopedia available in several languages, mainstream articles, a directory of specialized services in partner countries, an inventory of orphan drugs, recommendation sheets, summary reports, and a newsletter. This ensures access to data on every disease.
Dr. Loredana D’Amato Sizonenko, Deputy Head Physician, Division of Genetic Medicine, Laboratory Testing, and Pathology, Geneva University Hospitals