Virginia Tech scientist identifies narrow opportunity to address a disease connected with autism, schizophrenia
The human brain begins to assemble itself shortly after conception as a growing number of cells connect to create circuits across the brain.
Genes provide the blueprint for construction, but occasionally the blueprint is incomplete, connections aren’t made, and circuits fail — sometimes long before the problem can be recognized, let alone fixed.
That’s the case with DiGeorge syndrome, also called 22q11.2 deletion syndrome, a genetic disorder affecting about one in 3,000 babies. It begins with a deletion of one of two copies of a small number of genes on human chromosome 22, whose cascading effects include cardiovascular problems, craniofacial developmental issues, and as children grow older, autism spectrum disorder and schizophrenia. By the time those symptoms are recognized, it’s long past the opportunity for a medical intervention.