1. In this cohort study, a combination of exome sequencing, microarray analysis, and phenotypic data improved the detection of rare pediatric diseases. 2. Several factors were identified that impact the probability of successful diagnosis, including the recruitment of a parent-offspring trio. Evidence Rating Level: 2 (Good) Study Rundown: Genomic sequencing has enabled significant progress in
Around 5,500 people with severe developmental disorders now know the genetic cause of their condition, thanks to a major nationwide study in the U.K. that will help improve diagnosis across the world.
Major Research Study Diagnoses 5,500 People with Rare Genetic Diseases miragenews.com - get the latest breaking news, showbiz & celebrity photos, sport news & rumours, viral videos and top stories from miragenews.com Daily Mail and Mail on Sunday newspapers.
More than 13,500 families from 24 regional genetics services across the UK and Ireland were recruited to the Deciphering Developmental Disorders (DDD) study. All the families had children with a severe developmental disorder, which was undiagnosed despite prior testing through their national health service and likely to be caused by a single genetic change. Combined with other high-tech methods, the team have so far been able to provide genetic diagnoses for around 5,500 children. The diagnoses were in over 800 different genes, including 60 new conditions previously discovered by the study.