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New DNA Research Sheds Light on Childhood Disorders

NIH LogoRecovery Act funds covered costs of research involving an innovative DNA sequencing strategy that has helped medical science identify genetic mutations causing some birth defects and childhood brain disorders, researchers say.


A total $6.8 million of Recovery grants from the National Institutes of Health (NIH) underwrote two research projects performed earlier this year using the new sequencing technique, which, instead of mapping the entire human genome, only concentrates on a tiny portion containing proteins affecting overall genetic activity.


A $3.9 million grant from NIH’s National Human Genome Research Institute (NHGRI) to the University of Washington allowed researchers to study possible genetic causes of Kabuki syndrome, a rare brain disorder that can cause multiple birth defects and mental retardation. Using the new technique, researchers identified for the first time genetic abnormalities or alterations and concluded they are a major cause of the syndrome.


“It’s clear from this work that new DNA sequencing technologies are powerful and effective tools that scientists can use to accelerate the discovery of genes involved in rare diseases, an effort that previously was slow and costly,” said NHGRI director Eric D. Green. “The potential to rapidly identify gene mutations causing more than 6,000 rare diseases is an important step forward for researchers who are trying to understand the biology of these conditions and thereby improve strategies to care for patients they affect.”



Brain scans of a healthy child (left) and a child with microcephaly, polymicrogyria and schizencephaly. Courtesy of Murat Gunel, M.D., Yale University.

A $2.9 million Recovery grant from NIH helped other researchers to discover that mutations in a single gene can cause several types of brain abnormalities in children.

The research focused on children with malformations of cortical development (MCD), involving the brain's outermost layer. Normally this layer’s complex folds are densely packed with brain cells; with MCD, the cortex is smaller and the folds are less complex. Affected children have severe intellectual disabilities and may not reach developmental milestones.


Multiple different and distinct types of MCD can occur, but through the new sequencing technique, researchers identified a single gene as the root of each type. This sequencing “can be applied to dozens of other rare genetic disorders where the culprit genes have so far evaded discovery,” said lead researcher Murat Gunel, chief of the Neurovascular Surgery Program and co-director of the neurogenetics program on at Yale University. “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.”


More on Kabuki syndrome research

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