“Expansion Hunter” method can detect DNA errors that lead to repeat expansion diseases
Detecting hidden genetic defects by applying an existing method to an existing datasets. Researchers at Radboud university medical center have succeeded: they showed that the 'Expansion Hunter' method can detect errors in the DNA that lead to repeat expansion diseases, such as the movement disorder ataxia. This result provides guidance to fellow researchers worldwide on how to use this method to diagnose patients with genetic disorders.
With current diagnostic technology for genetic disorders, it is possible to map all 20,000 genes in our DNA at once. Doctors are increasingly opting for this so-called exome technique: it is widely applicable and increasingly provides molecular diagnoses. The exome technique is particularly suitable for finding simple changes in DNA.