NKAP-related syndrome, a newly identified neurodevelopmental disorder caused by mutations in the NKPA gene, causes developmental delays, intellectual disabilities, behavioral abnormalities, and musculoskeletal problems in children.
Kdm6a, a gene on the X chromosome appears to be associated with the development of autoimmune diseases, such as Multiple Sclerosis. The gene is expressed more in the immune cells of females than males. When Kdm6a was deleted in mouse models of MS, the animals had improved symptoms and reduced inflammation. The findings shed light on why women are more prone to autoimmune diseases than males.
According to researchers, a drug approved by the FDA may reverse some of the symptoms associated with Fragile X syndrome. The drug can reverse hyper-excitability that leads to sensory hypersensitivity.
Despite growing evidence linking genetics to some criminal behavior, researchers report using genetic evidence is a court room is likely not to be an effective tool in persuading juries that a defendant is less culpable for their actions.
Researchers report a lack of a nutrient required for normal brain development may trigger a mild form of autism. The findings, published in BioEssays, suggests supplementing the diet with carnitine could prevent up to 20% of autism cases.