British scientists said on December 24 they had discovered 12 genes linked to developmental disorders in children that can cause heart defects, seizures and intellectual disability. The genes were found in a trawl of the genomes of 1,133 children with severe, undiagnosed disorders and their parents, said the authors of a study published in the journal Nature.
"These newly implicated genes increase by 10 percent the proportion of children that could be diagnosed" by identifying the DNA mutations responsible for their condition, they wrote.
Up to half of children with severe developmental disorders have no specific genetic diagnosis. Some disorders are extremely rare, and symptoms can vary from one person to another.
Pinpointing the genes responsible "is the starting point in the search for new treatments," said a statement from the Wellcome Trust Sanger Institute, which takes part in the ongoing genetic research project dubbed Deciphering Developmental Disorders (DDD).
Comments
Comments are closed.