Jamie Simon, Ryan Lister, and Joseph R. Ecker, The Salk Institute

Revealing pathology with genome sequencing

Recent technological advances have made it easier to detect human mutations and link them to pathology. Our ability to identify and target cancer-specific mutations has opened up a new and promising line of research. The rise of new genetic editing tools and a deeper understanding of the genetic architecture of traits, combined with reproductive technologies, offer the possibility to eliminate or mitigate the deleterious impact of mutations. While some mutations are easier to target than others, which can cause frustration at the pace of translating genetic information into medical help, enormous progress has arguably been made in the decade since the first human genome was decoded—and there's the promise of even more clinical applications in the future.