Many are known to be caused by mutations in single genes, yet for the vast majority no treatments are available. (sciencemag.org)
Cystic fibrosis is a rare inherited disease caused by mutations in a single gene called cystic fibrosis transmembrane conductance regulator (CFTR) and affects 1 in every 2500 newborns in the UK and over 90000 people worldwide. (sciencedaily.com)
Unlike rare diseases, which typically stem from mutations in a single gene, common diseases emerge from mutations in multiple genes, sometimes tens or even hundreds of them. (broadinstitute.org)