Helgenomanalys vid sällsynta diagnoser ger stor patientnytta
If a disease affects fewer than 1 in 2 000, the European Union defines it as a rare disease. Globally, about 300 million people live with a rare disease, and in Sweden about 400 000. There are approximately 7 000 different rare diseases. The clinical picture varies from a single symptom to complex patterns with multiple organs affected, often combined with cognitive and motor impairment. At least