The story followed a family whose five-year-old son was the first ever case of a rare genetic disease. The child was diagnosed in an exome sequencing study. Without other patients, it would have been impossible to get 100 percent final confirmation — and more importantly, it would have been impossible to get scientists to investigate the disease and explore potential therapies. The piece chronicled the family’s successful effort to locate other patients on their own, thereby overcoming the built-in barriers to sharing sequencing data between labs and institutions.
