The researchers have uncovered 12 new genetic causes leading to the disorders in the developmental processes including congenital heart defects and intellectual disabilities in children.
The findings have been made from the Deciphering Developmental Disorders (DDD) in Britain, which is the largest genome-wide and nationwide and diagnostic sequencing programme in the world. The study has involved 12,000 families for analysis. DDD is a joint collaboration between the National Health Service and the Wellcome Trust Sanger Institute.
In the study, the researchers described the findings from the first 1,133 samples following DNA sequencing. The results were then compared with the clinical characteristics of more than thousands of children in order to find out the genes that are responsible for the disorders such as congenital heart disabilities, intellectual disabilities and others.
The DDD researchers jointly worked with 180 clinicians picked from 24 regional genetics services in the Republic of Ireland and UK. They analysed as many as 20,000 genes in each of 1,133 children having severe disorders that are very rare and poorly characterized. Moreover, these disorders cannot be diagnosed easily via the standard clinical tests.
The researcher group collected clinical data in a database and also the information on the genetic variants from the genome of each patient.
With the help of nationwide secure data-sharing network, DDD made the findings and comparison of these incredibly rare disorders possible as well as easy.
According to the researchers, four out of the 12 newly identified genes, they found identical mutations in two or more unassociated kids living hundreds of miles apart.
They further said that all the newly found developmental disorders were caused due to new, ‘de novo’, mutations, which are available in the child but absent in the genomes of their parents.
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