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Nancy Drew and the Mystery of the Whole Genome

Whole-genome sequencing is still very expensive, but it is being used to make a difference in the lives of patients with rare diseases, says Richard Knox at the NPR Shots blog. Clinicians were able to treat Alexis and Noah Beery — 14-year-old twins afflicted with a rare disease called dopa-responsive dystonia — with a simple and effective therapy for their disease after they underwent whole-genome sequencing. Although the twins were diagnosed with DRD when they were five years old and were subsequently treated with the drug L-dopa, their symptoms worsened as they got older, Knox says. When they were tested for mutations of two genes known to be involved in DRD, the tests came back negative. So researchers at Baylor College of Medicine — who recently published this work in Science Translational Medicine — sequenced the genomes of the twins, their parents, and grandparents, and found that the children had both inherited a gene variant from each parent that together had led to low levels of dopamine, serotonin, and noradrenalin, Knox says. Once the twins' clinician saw the results, she added a serotonin supplement to the L-dopa they were already taking, and their symptoms have all but disappeared, Knox adds. "Study authors say the Beery's case shows how genomics will ultimately revolutionize medicine by making diagnosis more precise and pointing toward life-changing treatments," he says.

Daily Scan's sister publication, GenomeWeb Daily News, has more on this story here.

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