Discovery

In summer of 2019 NICE approved the use of a completely new class of drugs: the gene silencers. These compounds are transforming the lives of families who have rare debilitating – and sometimes fatal - diseases such as amyloidosis and porphyria. James Gallagher, BBC Health and Science Correspondent, reveals the ups and downs in the story of how a Nobel prize winning discovery of RNA interference has become a useful drug in less than a quarter of a century.Professor Craig Mello, one of the winners of the Nobel Prize in 2006 for revealing the mechanism of RNA interference, and Professor Mark Kay of Stanford University, look back at the discovery.Sue Burrell, who has acute intermittent porphyria, explains how a gene silencing drug has reversed her symptoms of extreme pain. Dr Carlos Heras-Palou, an orthopaedic surgeon at Royal Derby Hospital, who has hereditary transthyretin-mediated amyloidosis has had his career saved by taking another gene silencing drug, patisaran. It has restored the feeling in his hands he