Whole Genome Sequencing Identifies Key Mutations in Fraternal Twins

June 15, 2011

June 15, 2011 | The teenage fraternal twins of LIfe Technologies CIO Joe Beery, both diagnosed with dopa-responsive dystonia, are thriving following the identification of key mutations affecting neurotransmitter production using whole-genome sequencing. The sequencing and analysis was performed by Richard Gibbs, Matthew Bainbridge and colleagues at Baylor College of Medicine (BCM), as described in a new paper in Science Translational Medicine. "I think this shows there will come a day when the genome sequence will be as integral to the workup of a patient as the family history is right now," said BCM geneticist and co-author, Jim Lupski. Houston Chronicle