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
'/>"/>
| Contact: Daniel Stimson stimsond@ninds.nih.gov 301-496-5751 NIH/National Institute of Neurological Disorders and Stroke Source:Eurekalert |
Related biology news :
1. Duke team finds compounds that prevent nerve damage
2. Study finds genetic variant plays role in cleft lip
3. In a last stronghold for endangered chimpanzees, survey finds drastic decline
4. Brown scientist finds coastal dead zones may benefit some species
5. Study finds high mortality of endangered loggerhead sea turtles in Baja California
6. Yale journal finds nanomaterials may have large environmental footprint
7. UCSB study finds physical strength, fighting ability revealed in human faces
8. NJIT professor finds engineering technique to identify disease-causing genes
9. Grapes may aid a bunch of heart risk factors, animal study finds
10. NC State finds new nanomaterial could be breakthrough for implantable medical devices
11. Pitt research finds that low concentrations of pesticides can become toxic mixture
| Copyright © 2003-2012 Bio-Medicine. All rights reserved. ABOUT | CONTACT US | DISCLAIMER | PRIVACY POLICY | TERMS AND CONDITIONS |  |