14 new childhood developmental disorders identified

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The largest-ever genetic study of children with previously undiagnosed rare developmental disorders has discovered 14 new developmental disorders…[T]he research led by scientists at the Wellcome Trust Sanger Institute also provided diagnoses of rare conditions for over a thousand children and their families.

There are over 1,000 recognized genetic causes, however many individual developmental disorders are so rare that the genetic causes are not known. The Deciphering Developmental Disorders (DDD) study aims to find diagnoses for children with as yet unknown developmental diseases, and demonstrate that new genomic technologies can provide improved diagnostic tests.

Overall, the researchers estimated that for 42 percent of the children in the study, a new mutation in a gene important for healthy development is likely to be the underlying cause of their condition.

From this, the researchers calculated that nearly 400,000 of the 140 million annual births across the world will have a developmental disorder caused by a spontaneous new mutation that is not carried by either parent.

[The study can be found here.]

The GLP aggregated and excerpted this blog/article to reflect the diversity of news, opinion, and analysis. Read full, original post: Genetic study identifies 14 new developmental disorders in children

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