Lead author of the study, Dr Karin Tuschl of the Wilson lab explains:

A new genome editing method called CRISPR/Cas9 was used to study the role of the transporter in zebrafish and showed that when the SLC39A14 gene is disrupted, there is a build-up of manganese in the brain and impaired motor behaviour similar to that seen in humans. This important observation confirmed that we had indeed identified the disease-causing gene in our patients. Our findings provide families with a genetic diagnosis for their children’s condition, thereby facilitating counselling for future pregnancies.

Read more on the UCL website here

Read the publication in Nature Communications here