By having their genomes sequenced, the health problems of a set of fraternal twins living near San Diego was solved, reports NBC 7. As toddlers, the twins were diagnosed first with cerebral palsy, and then with dopa-responsive dystonia. But then in 2009, both twins had additional health issues and that led to their parents to seek DNA testing for the family, NBC adds. The test found that in addition to having dopa-responsive dystonia, the twins also had a serotonin deficiency. With treatment, the twins are doing fine. Scripps Translational Research Institute's Eric Topol says one concern was that the source of the illness would be found, but that there would be no treatment. "So in the case of the Beerys', it was perfect," he tells NBC 7. "They found the mutation, found the right drug, found the right dose of the drug. It might not always have such a happy ending."
A Happy Sequencing Ending
Aug 28, 2012