In a recently published study in Nature, researchers at the Wellcome Sanger Institute (Hinxton, UK) and collaborators from the NHS Regional Genetics services (UK) have revealed that non-gene mutations may cause rare developmental disorders of the CNS.
Thousands of babies are born every year in the UK with mutations in their DNA, which consequently results in developmental abnormalities. These genetic changes can lead to conditions such as intellectual disability, epilepsy, autism or heart defects and many of these disorders remain undiagnosed due to their rarity.