5,500 people diagnosed with rare genetic disorders in major UK and Ireland study

Genome sequencing of children with rare conditions should improve speed and accuracy of NHS diagnoses

About 5,500 people with severe developmental disorders now know the genetic cause of their condition thanks to a major study that will be used to improve the speed and accuracy of NHS diagnoses.

More than 13,500 families with a child with a severe developmental disorder across the UK and Ireland had their genomes sequenced to establish what genetic change had led to their condition, and whether it was inherited or the result of a mutation. All the children had previously been undiagnosed despite being tested.