Large genetic study reveals fourteen new children’s developmental disorders


A major genetic study of children has found fourteen new rare developmental disorders which were not diagnosed earlier. The research led by scientists at the Wellcome Trust Sanger Institute also delivered diagnoses for over a thousand children and their concerned families.

The institute also revealed that these diagnoses will allow families ailed by the same conditions to associate and access support. The revelations will also help inform and create better clinical management. Another fruitful result of the study will be accelerated research in disease mechanisms and their therapies.

It was pointed out in the study that each year thousands of babies are born who develop abnormally because of errors in their individual genetic makeup. This causes them to suffer conditions like epilepsy, autism, intellectual disability or heart defects.

While over a thousand genetic causes are recognized, many individual disorders are so rare that their genetic causes remain a mystery. The DDD (Deciphering Development Disorders study) aims to find diagnoses for children who have these still unknown developmental diseases and exhibit that upcoming genomic technologies can offer improved tests for diagnosis

In collaboration with 200 NHS clinical geneticists, the scientists reviewed 200,000 human genes from over 4000 English and Irish families with at least a single child having a developmental disorder.

The team behind the DDD study concentrated on new mutations that come up as DNA is passed on from parents to children. The conditionings affecting the children were also assessed clinically and the team then united all the results to help those children with similar disorders with a diagnosis.

The team was able to diagnose effectively one-quarter of the patients in the study who has the rare new mutations in genes that were linked to developmental disorders.

Furthermore, fourteen new developmental disorders were identified which were a result of spontaneous mutation found in neither parent.

Scientists from the Institute revealed that the disorders were very astonishingly rare hence it was crucial for any diagnosis that there were a large number of patients. By employing hundreds of staff and researchers they successfully were able to evaluate large amounts of data and were able to link many children from clinics throughout the British Isles.

The MRC Human genetics unit at the University of Edinburgh shared that families are always in search for better ways to care for their young ones and a genetic diagnosis for their children to help to better understand the cause of the child’s disorder. This approach also aids the doctor in improved managing of the condition of their child and reveals clues for further research for upcoming therapies.

The said practice also gives a chance to parents to envision future scenarios for the children’s health and risks of later pregnancies, which can be very helpful for those wanting larger families.

On the whole, the study estimates that 42% of the children who were a part of the research had a new mutation in their gene which is responsible for healthy development which thus causes the condition. Through the DDD study, it was also estimated by researchers that 1 in 300 children in the UK are born with a rare developmental disorder because of a new mutation. That’s makes it more than 2000 kids a year in the country.


A very interesting insight shown by the study was that children of older parents stand to face a greater risk of having mutation caused developmental disorders. The odds incremented from 1 in 450 for 20-year old parents having a kid with a rare developmental disorder to 1 in 210 for 45-year-old parents.

Hence from, the scientists calculated that approximately 400,000 of the 140 million yearly births through the world will be with a developmental disorder produced by a spontaneous new mutation that is not from any parent.

The doctor leading the study from the Institute also publicized that the said study had the largest group of such families which were studied by 200 clinical geneticists and had 4000 patients. It was through a collaborative effort of the many parties involved that the diagnosis was made possible.