When Noah and Alexis Beery were diagnosed with cerebral palsy nearly 13 years ago, the diagnosis never sat right with the twins’ mother, Retta Beery.
Her lengthy search for the true cause of her children’s strange collection of symptoms finally led to an answer when a scan of the twins’ genomes turned up a genetic defect that caused the children’s disorder and finally led to the right treatment.
The investigation offers a rare glimpse at the potential of whole genome sequencing — now largely reserved for research — at improving the treatment of individual disease.
Now, the once-disabling disorder that caused involuntary spasms and left one twin unable to walk is all but gone, and both teens are thriving in school and playing sports.
“If you saw them today, you’d say there was nothing wrong with them,” said Dr. Matthew Bainbridge of Baylor Genome Sequencing Center in Texas, whose research appears in the journal Science Translational Medicine. Read more…