How precision medicine paved the way to the first cystic fibrosis drug

Abstract

Children with salty skin - a telltale sign of the genetic disease cystic fibrosis, which ravages the lungs and digestive system - can now live well into adulthood, thanks to the first drugs designed to treat people with a specific genetic mutation. The grief-worn families in Breath from Salt put their efforts and money into the Cystic Fibrosis Foundation, a charity based in Bethesda, Maryland, that has become a trailblazer in venture philanthropy. Genetic link The foundation helped to fund research that discovered the genetic cause of the disease: mutations in the gene encoding the protein CFTR, which is key to transporting ions from salt across cell membranes, explaining the skin taste.