Mosaic mutations – present in some brain cells but not all brain cells – and their relevance to autism

Christopher Walsh, M.D., Ph.D.
Chief of the Division of Genetics, Boston Children’s Hospital
Bullard Professor of Neurology, Harvard Medical School

On January 22, 2018, Christopher Walsh presented data on genetic mutations that occur only in the brain. These mutations, named post-zygotic mutations, are seen only in the brain because they occur after the formation of the zygote, when the embryo starts developing and different types of cells are formed. In his presentation, Walsh presented data on why these mutations are important for understanding the features of autism, and how they may contribute to the formation of the brain in people with autism.