Researchers revealed 12 genetic causes of developmental disorders that have never been identified before.
The findings the first made by the Deciphering Developmental Disorders (DDD) project, which is the "largest, nationwide genome-wide diagnostic sequencing program." The purpose of the study is to find genes responsible for conditions such as intellectual disabilities and congenital heart defects, the Wellcome Trust Sanger Institute reported.
To make their findings the researchers looked at data from 80 clinicians from 24 regional genetics services across the U.K. and the Republic of Ireland in order to analyze 20,000 genes in 1,133 children with severe and rare genetic disorders. All 12 of the newly-identified genetic risks were observed in at least two children who were unrelated and lived a minimum of 100 miles apart.
"Working at enormous scale, both nationwide and genome-wide, is critical in our mission to find diagnoses for these families," said Dr. Helen Firth, an author from the Department of Clinical Genetics at Addenbrooke's Hospital and Clinical Lead for the DDD study. "This project would not have been possible without the nationwide reach of the U.K. National Health Service, which has enabled us to unite a number of families who live hundreds of miles apart but whose children share equivalent mutations and very similar symptoms."
The researchers observed that out of a sample of children with the gene PCGF2 (which is responsible for regulating genes important in embryo development) two had similar facial features, leading them to identify a new dysmorphic syndrome. All of the new genetic risk factors were "de novo" mutations, meaning they did not occur in the patients' genomes.
The findings highlight the importance of using genetic data from parents to identify the cause of their children's condition.
"There is a clear moral imperative for both clinical testing laboratories and research studies to share this information globally," said Dr. Matt Hurles, senior author and principal investigator on the DDD project. "DDD and DECIPHER have demonstrated that large-scale data sharing can give families the diagnoses they so urgently need; diagnoses that simply cannot be made by looking at the data in isolation."
