Published: 12 April 2023
Thousands of parents now know the genetic cause of their children’s severe developmental disorders thanks to a pioneering study supported by the NIHR Cambridge Biomedical Research Centre. As a result, children are getting better treatment and parents are able to connect with others who have similar experiences.
Around a quarter of children in the study had their treatment changed once they had a clear diagnosis.
The Deciphering Developmental Orders (DDD) study is a collaboration between the NHS, universities and the Wellcome Sanger Institute funded by Wellcome and the Department of Health and Social Care, and supported by the NIHR. It ran over 10 years with more than 13,500 families from 24 regional genetic services across the UK and Ireland.
Rare developmental disorders, collectively, affect 1 in 17 people in the UK. An undiagnosed disorder can affect the course of treatment and the child’s quality of life. It also can cause years of uncertainty for parents about their child’s development.
The study, published in the New England Journal of Medicine, used genome sequencing with other high tech methods to provide a diagnosis for 5,500 families. These methods also helped to discover 60 new conditions previously in the study. Most genetic changes were errors that had occurred spontaneously at conception. Rather than being inherited. The research team also found that the chances of success in getting a diagnosis was lower in families of non-European ancestry. Reinforcing the need to increase research participation for under-represented groups.
UK Health Minister Will Quince said “We’re creating the most advanced genomic healthcare system in the world and this study is yet another step forward to revolutionising care for NHS patients.
Using cutting edge, high-tech methods such as this offers the potential to better understand and more accurately diagnose rare genetic conditions so children can access treatment faster and potentially limit the impact of the disease on their life.”
Impact of diagnosis for families
Among the findings, researchers were able to diagnose Jessica Fisher’s son Mungo with Turnpenny-Fry syndrome. The syndrome was initially discovered by the study in 2015. At the time, Mungo was one of only two people in the world to be diagnosed with this condition.
Rare changes in a gene called PCGF2 causes Turnpenny-Fry syndrome. The disorder causes learning difficulties and impaired growth. As well as distinctive facial features that include a large forehead and sparse hair.
As a result, Jessica started an online group which has now connected 36 families across the world. Making it an invaluable community for those who are newly diagnosed.
This support group has been Dasha Brogden’s lifeline. Her daughter Sofia, now nearly aged three, was diagnosed with Turnpenny-Fry syndrome at just one month old. The diagnosis made Dasha aware of the possibility of heart conditions. After a scan, it was revealed Sofia needed heart surgery at two months old.
Dasha said “We’re also incredibly grateful to be part of this community. Very few people are living through this experience, and it feels like Jessica and Mungo are like family to us. It’s invaluable, and it’s only been possible because they took part in the study and got a diagnosis, which is now helping others to get there much faster.”