Cure neurodevelopmental genetic disorders, please.

Dramatic, seemingly exponential advances have brought about much hope towards improving the efficacy of management of patients with conditions long-thought incurable, such as neurogenetic disorders. These advances have been both technological and conceptual. They result from refinements in the understanding of pathophysiology and intensive developments of approaches to compensate or bypass the critical failure that causes selected inherited disorders. Byzantine as they should appear to lay people or indeed to many clinical specialists and despite the barriers currently precluding their application, the names of these approaches have invested the language of increasing numbers of parents of children with neurodevelopmental genetic conditions. This leap from bench to dinner table is obviously allowed by the effectiveness and accessibility of communication technologies but it also reflects the emergence of the ‘expert patient’, which needs to be reconciled with professional understanding of disease [1]. This welcome evolution of parent-practitioner partnership has contributed to empowering parents in their own struggle for recognition and improved care. Within hours after the publication of a complex gene expression study on Nature website, we both received numerous e-mails from parents of children with Angelman syndrome to call our attention to it and to express hopes that a cure would be imminently available. Perchance a cure: ay, there’s the rub.