Research Into Rare Diseases of Childhood

The acceleration of clinical trials studying rare diseases over the past three decades has occurred largely because of the Orphan Drug Act, which was enacted in 1983 as a result of patient advocacy groups working with congressional sponsors. Rare diseases research in children is of particular importance as genomic medicine becomes more established as a discipline. For many rare disorders, early treatment can lead to markedly improved outcomes and associated quality of life. Batshaw et al affirm that research in rare diseases in children is likely to provide important information that will have benefits beyond the populations studied. They say that the recently passed Prematurity Research Expansion and Education for Mothers who Deliver Infants Early Reauthorization Act 9 that contains language to create a national pediatric research network to help children with rare genetic diseases, is another important step in the direction of promoting rare diseases research in children.