The UK’s Deciphering Developmental Disorders (DDD) is the world’s largest nationwide and genome-wide diagnostic sequencing program which has lead to the discovery of twelve previously unknown genetic syndromes and their causative genes.
An evaluation of 1133 families, the beginning of 12,000 future family tests, found 12 new causative genes for syndromes that had been previously unrecognized. The analysis was done by trio exome analysis – comparing the genome of an affected child with the genomes of their normal parents. All of the newly discovered disorders were caused by new ‘de novo’ mutations that were present in the child but not in the parents – indicating the mutation probably occurred in the formation of an egg or sperm in the parents. This is an example of a condition that is genetic but not inherited!
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