Growing numbers of children with rare disabilities can now be diagnosed with specific, gene-related diseases, British researchers have reported.
A major project is under way at the Sanger Institute, Cambridge, UK, to pinpoint genetic mutations responsible for a range of learning and physical disabilities.
Last week researchers announced their first 12 genetic causes of these developmental disorders in the journal Nature.
In all cases, the genetic changes are found in the affected children but not their parents, the researchers report.
The project is analysing data from some 12,000 families and the first results come from a study of some 1,133 samples. Some 180 clinicians in 24 regional genetics services in the UK and the Republic of Ireland are involved in the project.
Researchers said this has increased the proportion of patients who can be given a diagnosis by 10%.
One mutation found in gene PCGF2 was found to be linked to “strikingly” similar symptoms and facial features in two unrelated children.
Dr Helen Firth, of Addenbrooke’s Hospital, Cambridge, said: “Working at enormous scale, both nationwide and genome-wide, is critical in our mission to find diagnoses for these families.”
Large-scale discovery of novel genetic causes of developmental disorders. Nature 24 December 2014; doi: 10.1038/nature14135
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