Reporting in the journal Nature, researchers describe how they generated a blueprint for the developing human brain by building a detailed map of where genes turn on and off during mid-pregnancy. Their report emphasizes insights into the genetic origins of developmental disorders such as autism and schizophrenia.
“Knowing where a gene is expressed in the brain can provide powerful clues about what its role is,” says lead investigator Ed Lein, of Seattle’s Allen Institute for Brain Science. “This means that we have a blueprint for human development, an understanding of the crucial pieces necessary for the brain to form in a normal, healthy way and a powerful way to investigate what goes wrong in disease.”
The report represents the first major findings using data from the BrainSpan Atlas of the Developing Human Brain, a major research initiative funded by the National Institute of Mental Health. The brain maps and other information generated by the project become freely available to researchers worldwide. (Access the maps and other data here.)
In their study, the researchers used the BrainSpan Atlas to examine a number of genes that previous research had linked to autism.
“We used the maps we created to find a hub of genetic action linked to autism,” Dr. Lein says. This hub of prenatal gene activity involved the formation of neurons in the cortex, a brain region involved in many features of autism including social behavior.
“This is a seminal study that will influence neurodevelopmental research and medicine well into the future,” comments Daniel Smith, Autism Speaks senior director of discovery neuroscience. “The fine brain mapping at the heart of this project gives us new, deeper insight into the development of the brain. It’s a big step in available tools to bridge genetics, brain development and pathophysiology, and ultimately for making better medicines.”
The Nature report comes on the heels of related discoveries, published in the New England Journal of Medicine, showing a common pattern of disrupted prenatal brain development in children who had autism. (Read our news story here.)
The donated postmortem brain tissue that makes such research possible comes from scientific biorepositories such the Autism Speaks Autism Tissue Program. The program is currently becoming part of a new collaborative tissue bank called BrainNet. To learn more about registering for brain donation, click here.
To hear a National Public Radio segment on the BrainSpan Atlas study, click here.