DNA Scans Can Spot Cause of Brain Issue in 25% of Kids
Scanning the genes of children with inherited brain disorders pinpoints the precise cause more than a quarter of the time, often changing the diagnosis, according to one of the largest studies of child DNA sequencing.
The study published today in Science Translational Medicine examined the genes in 118 people with child-onset brain development disorders where obvious causes had been excluded. Researchers found new disease-causing mutations in 22 patients. In 10 more people, the scans found rare genetic diseases that had been misdiagnosed because symptoms were atypical. In two cases, the new diagnosis led to changes in treatment.
The study “is a remarkable demonstration of the power of sequencing in the clinic -- precise, molecular, root cause diagnosis,” said Eric Topol, a professor of genomics at the Scripps Research Institute in San Diego in an e-mail. “Virtually all diseases” will be more precisely defined through gene sequencing in the not-too-distant future, he wrote.
The research shows how often DNA scans can improve diagnosis in kids with brain disorders such as autism, severe epilepsy, or intellectual disability, said Joseph Gleeson, a child neurologist and study author. Brain development disorders afflict as much as 4 percent of children and are often genetic, yet the precise causes can be elusive, he said. Sequencing lets researchers examine all genes for abnormalities, instead of testing for one genetic disorder at a time as done now.
http://www.bloomberg.com/news/2012-06-13/dna-scans-can-spot-cause-of-brain-issue-in-25-of-kids.html
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