With different mutations in the cystic fibrosis transmembrane conductance regulator (CFTR) causing different severities of the disease and requiring different drugs to increase protein function, cystic fibrosis (CF) is the poster child of precision medicine. Read More
Among the goals of the International Rare Diseases Research Consortium are to make possible the diagnosis of as many rare diseases as possible and to contribute to the development of 200 new rare disease treatments by 2020. To date, the consortium has recorded 142 medicines that contribute to the target. This number was certainly boosted by last year's FDA approval of 17 new drugs with rare or orphan disease indications. Read More
