Genomics Are a Lifesaver for Patients With Rare Diseases

In 2016, Jessica Wright became one of the first children to be diagnosed by the 100,000 Genomes Project, a program that provides whole-genome sequencing services for patients. She suffered from an unknown disease that caused epilepsy and affected her motor control. No treatment seemed to work. After years of numerous medical tests--from MRI scans to lumbar punctures--and failed treatments, her parents decided to enroll the 4-year-old in the 100,000 Genomes Project. The researchers found that Jessica's genome contained 67 rare genetic variants not present in her parents' genome.