Live Breaking News & Updates on Ethox Centre At Oxford Population Health

Stay updated with breaking news from Ethox centre at oxford population health. Get real-time updates on events, politics, business, and more. Visit us for reliable news and exclusive interviews.

5,500 people diagnosed with rare genetic dise

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. ....

United Kingdom , United States , Michael Parker , Jessica Fisher , Dasha Brogden , Matthew Hurles , Helen Firth , Caroline Wright , University Of Oxford , Method Of Research , Genomic Medicine At Cambridge University Hospitals , University Of Exeter , Genomic Medicine Service , University Of Cambridge , Department Of Health , Care Research , National Institute For Health , Rapid Genome Sequencing Service , Ethox Centre At Oxford Population Health , Wellcome Sanger Institute , Deciphering Developmental Disorders , Social Care , National Institute , New England Journal , Genomic Medicine , Honorary Professor ,