Gene Scan Finds Link Across Array of Childhood Brain Disorder

Published August 22, 2010 in EurekAlert

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. Whole exome sequencing can be applied to dozens of other rare genetic disorders where the culprit genes have so far evaded discovery. 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.

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