In a major breakthrough that sheds new light on the genetic causes behind some of the mysterious neurologic and psychiatric conditions, researchers at Boston Children's Hospital have discovered subtle somatic mutations that affect just a small percentage of cells in patients with brain disorders.
The researchers made use of a technique called targeted high-coverage sequencing among 158 patients who were suffering from brain malformations due to unknown genetic causes.
Advertisement"Our findings suggest that serious neuropsychiatric disorders can result from mutations that are detectable in as few as 10 percent of patients' blood cells. By limiting ourselves to selected genes but covering them more deeply we may be able to find more answers for families and better understand these disorders", lead researcher Christopher Walsh said.
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