Large genetic study identifies 14 new developmental disorders

An expansive genetic study involving thousands of families identified 14 new developmental disorders. The findings are published in the journal Nature.

Every year thousands of children are born with genetically derived developmental disorders. While there are more than 1,000 genetic issues responsible for such disorders, some disorders are so rare direct genetic causes are not known.

To better understand the genetic makeup of developmental disorders, a team of researchers led by the United Kingdom's Wellcome Trust Sanger Institute screened all 20,000 human genes extracted from more than 4,000 families across the U.K. with at least one child affected by a genetic disorder.

The large research team was able to identify genetic mutations previously associated with developmental disorders in approximately 25 percent of children participating in the study. Additionally, they identified 14 new developmental disorders caused by genetic mutations that could not be identified in either parent.

"The diagnoses we found were only possible because of the great collaborative effort," said lead author Matt Hurles, PhD, a genetic researcher with the Wellcome Trust Sanger Institute. "Finding a diagnosis can be a huge relief for parents and enables them to link up with other families with the same disorder. It lets them access support, plug into social networks and participate in research projects for that specific disorder."

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