More than a thousand families have for the first time been given diagnoses for development disorders following a major UK-based genetic study, it was announced last night.
The research in Cambridge, UK, also identified 14 new developmental disorders.
The project screened genomes from more than 4,000 families and used the services of NHS clinical geneticists as well as the scientists at the Wellcome Trust Sanger Institute, Cambridge, and Edinburgh University.
The researchers say that in 25% of patients they found new mutations in genes known to be linked to developmental disorders.
The 14 new developmental disorders were identified as spontaneous mutations not found in either parent.
The findings were published last night in Nature.
The researchers say that 42% of the children were affected by a new mutation in a gene important for healthy development.
They also found that this risk increased with the age of parents – doubling between parental ages of 20 and 45.
Researcher Dr Jeremy McRae, from the Sanger Institute, said: “Each of these disorders is incredibly rare, so the large number of patients in this study was crucial to diagnosis. An individual doctor may see only one case, but by collaborating with hundreds of NHS staff and researchers we were able to link children from clinics across the British Isles.
"This allowed the team to match up children with similar disorders within the project and provide diagnoses for them.”
Prevalence and architecture of de novo mutations in developmental disorders. Nature 25 January 2017; doi: 10.1038/nature21062
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