Genetic origin: Twelve new causes discovered
Up to half of children with severe developmental disorders of probable genetic origin
ISLAMABAD:
According to the researchers up to half of children with severe developmental disorders of probable genetic origin go without a genetic diagnosis for their conditions. The Deciphering Developmental Disorders (DDD) program aims to remedy this and will analyze data from 12,000 families taken from across the UK and Republic of Ireland. It is the largest nationwide and genome-wide diagnostic sequencing program in the world, Medical News Today reported. “Working at enormous scale, both nationwide and genome-wide, is critical in our mission to find diagnoses for these families,” explains Dr. Helen Firth, the clinical lead for the DDD program. The initial findings come from analysis of the first 1,133 samples of data and have resulted in a 10% increase in the proportion of patients that can be diagnosed.
Published in The Express Tribune, December 29th, 2014.
According to the researchers up to half of children with severe developmental disorders of probable genetic origin go without a genetic diagnosis for their conditions. The Deciphering Developmental Disorders (DDD) program aims to remedy this and will analyze data from 12,000 families taken from across the UK and Republic of Ireland. It is the largest nationwide and genome-wide diagnostic sequencing program in the world, Medical News Today reported. “Working at enormous scale, both nationwide and genome-wide, is critical in our mission to find diagnoses for these families,” explains Dr. Helen Firth, the clinical lead for the DDD program. The initial findings come from analysis of the first 1,133 samples of data and have resulted in a 10% increase in the proportion of patients that can be diagnosed.
Published in The Express Tribune, December 29th, 2014.