Mutations in a single gene can cause several types of developmental brain abnormalities that experts have traditionally considered different disorders. With support from the National Institutes of Health, researchers found those mutations through whole exome sequencing a new gene scanning technology that cuts the cost and time of searching for rare mutations.
"This is going to change the way we approach single-gene disorders," said lead investigator Murat Gunel, M.D., who is chief of the Neurovascular Surgery Program and co-director of the Program on Neurogenetics at Yale University in New Haven, Conn. Whole exome sequencing can be applied to dozens of other rare genetic disorders where the culprit genes have so far evaded discovery, he said.
Such information can help couples assess the risk of passing on genetic disorders to their children. It can also offer insights into disease mechanisms and treatments.
The research is funded in part by a $2.9 million stimulus grant from NIH's National Institute of Neurological Disorders and Stroke (NINDS) made possible by the American Recovery and Reinvestment Act.
"This study demonstrates a powerful new tool for discovering the cause of tough-to-crack genetic disorders," said NINDS director Story Landis, Ph.D. "It also exemplifies how Recovery Act support to the NIH community is successfully driving biomedical technology and innovation."
The study appears today in Nature, and focuses on children with malformations of cortical development (MCD). These are severe abnormalities of the cerebral cortex, the brain's outermost layer, which normally contains complex folds that are densely packed with brain cells. In MCD, the cortex is smaller and its folds are less complex. Affected children have severe intellectual disabilities and may not reach developmental milestones.
Different types of MCD are recognized based on anatomy. They carry names like microcephal
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NIH/National Institute of Neurological Disorders and Stroke