Scientists can now diagnose the condition of severe intellectual disability in patients by looking at their genes, even in those for whom all other genetic tests failed to work.
These new findings suggest that novel, noninherited genetic anomalies are a major cause of the disorder, researchers added.
“For the first time, we can identify the genetic cause in the majority of patients with severe intellectual disability,” study co-author Joris Veltman, a geneticist at Radboud University Medical Center in Nijmegen, the Netherlands, told Live Science. “Genome sequencing technology allows us to do this in only a single test, which is of great importance for practical implementation in clinical care.”