rare-disease patient
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.
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- Health & Medicine > Pharmaceuticals & Biotechnology (1.00)
- Health & Medicine > Diagnostic Medicine (1.00)
- Health & Medicine > Therapeutic Area > Neurology (0.38)
- Health & Medicine > Therapeutic Area > Genetic Disease (0.38)