Katharina Buczek
Thanks to a recent nationwide study in the UK, approximately 5,500 individuals living with severe developmental disorders are now aware of the genetic cause underlying their conditions.
“Getting the right diagnosis is absolutely critical for families with rare conditions, which collectively affect around 1 in 17 people. Most of these conditions are genetic and can be diagnosed using the same genomic sequencing technology,” explained Caroline Wright, the study’s lead author.
The Deciphering Developmental Disorders (DDD) study, launched by the Wellcome Sanger Institute and the NHS, recruited over 13,500 families from 24 different regional genetics services located throughout the UK.
Each family had children living with undiagnosed severe developmental disorders likely due to a single genetic change– even though they had been previously tested via their national health service.
So, the researchers at the Wellcome Sanger Institute set out to sequence all of the parents and children’s genes in hopes of finding answers.
This genome sequencing was able to illuminate genetic diagnoses among about 5,500 children who participated in the study.
The diagnoses had a wide range– occurring in more than 800 different genes. They also included 60 new conditions which were discovered in the study.
Approximately 75% of the conditions were the result of spontaneous mutations– meaning they were not inherited from either of the child’s parents.
“The families in our study were desperate for answers, which can make a huge difference to clinical management and quality of life. We worked with hundreds of clinicians and scientists, as well as thousands of patients trying to find those answers,” Wright detailed.
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