Christopher Walsh is interested in the fundamental mechanisms directing human brain development. Walsh and his team focus on human genetic and basic molecular biology research, working to identify genes associated with brain disorders affecting children – such as microcephaly, autism, and epilepsy – and to study the mechanisms of these genes. The team’s work may lead to better options for diagnosis, management, and treatment for affected individuals and their families. Other research by the team has characterized the neuronal genome at the single-cell level and found that every neuron has distinctive patterns of mutation reflecting its developmental origin and the effects of aging.
Three brain development genes are found only in humans and may have helped drive the rapid expansion of the brain starting roughly three million years ago. Eleven HHMI scientists have been elected to the National Academy of Sciences. Scientists have engineered ferrets genetically to study abnormally small brain size in humans – and, in the process, discovered hints as to how our brains evolved. New research indicates individual human neurons may harbor up to 1,000 genetic mutations. HHMI scientists have devised a technique to identify hard-to-find gene mutations that crop up in a fraction of the body’s cells. Six HHMI scientists have been elected to membership in the Institute of Medicine. Brief summaries of the research carried out by the 12 patient-oriented researchers selected by HHMI in 2002