The discovery of two new genetic disorders comes from a study delivered through the National Institute for Health and Care Research (NIHR) Manchester Biomedical Research Center (BRC) and The University of Manchester and could provide answers for several thousands of people with neurodevelopmental conditions around the world.

Since the breakthrough, 18-year-old Rose Anderson from Stretford in Manchester has received a diagnosis of one of the newly discovered conditions.

Rose has been known to the team at the Manchester Center for Genomic Medicine at Manchester University NHS Foundation Trust (MFT) for nearly her whole life, although a precise diagnosis for her seizures and developmental delay has proved difficult to find.