One of the upsides of genome research is the accrued benefits associated with the research like the discovery of rare developmental disorders. Researchers working on then largest diagnostic sequencing program have discovered 12 new genetic causes for rare developmental disorders. The findings represent the initial findings of a long term project which aims to sequence 100,000 genomes by 2017. The Deciphering Developmental Disorders program represents one of the biggest studies of its kind in the world.
The details of the research have been detailed in a paper published in Nature. The paper states that 50% of children with major developmental disorders of probable genetic origin go without any genetic diagnosis for their condition.
The DDD or the Deciphering Developmental Disorders aims to correct this anomaly and analyze data from 12,000 families taken from across the UK and Republic of Ireland and will constitute the biggest nationwide and genome-wide diagnostic sequencing program in the world.
Dr. Helen Firth, the clinical lead for the DDD program explains, “Working at enormous scale, both nationwide and genome-wide, is critical in our mission to find diagnoses for these families.”
The preliminary 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.
The DDD program was started in 2010 as collaboration between the British National Health Service (NHS) and the Wellcome Trust Sanger Institute – a charitable foundation which supports medical research. The study involves 180 clinicians from 24 different regional genetics services. The DDD project has so far expansively analyzed every gene in 1,133 children with rare developmental disorders. Detailed clinical information of the participants is filed as a database along with the genetic variations of each patient’s genome.
The database offers research hers the chance to compare data for patients living thousands of miles apart. If there are patients with same type of symptoms who also have the same genetic mutations, it gives researchers a chance for more focused analysis of these mutations.
Dr. Firth explains, “This project would not have been possible without the nationwide reach of the UK National Health Service, which has enabled us to unite a number of families who live hundreds of miles apart but whose children share equivalent mutations and very similar symptoms.”