Western Morning News (Saturday)
Gene study finally giving comfort of a diagnosis
AMAJOR study of developmental disorders has helped thousands of people to know the genetic cause of their condition.
More than 13,500 families across the UK and Ireland were recruited to the Deciphering Developmental Disorders study, which has so far discovered around 60 new disorders.
All the families had children with a severe developmental disorder, which was undiagnosed despite tests.
The genomes – the complete set of genetic material – of the children and their parents were sequenced by The Wellcome Sanger Institute.
So far, researchers have been able to provide genetic diagnoses for around 5,500 children, but the search is still ongoing. The findings, published in the New England Journal of Medicine, showed around three-quarters of the conditions were caused by spontaneous mutations not inherited from either parent.
Lead author Caroline Wright, professor of Genomic Medicine at the University of Exeter, said: “We found thousands of diagnoses in more than 800 known conditions, and the study itself also discovered around 60 new conditions.”
Prof Wright added: “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.
“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 to try to find those answers. By sharing our findings, many more families in the future should get answers faster.”
Jessica Fisher, 59, from St Austell in Cornwall, was given a diagnosis for her son Mungo’s rare genetic disorder when he was 18. Mungo has Turnpenny-Fry syndrome, which was discovered in 2015 and is a rare genetic condition caused by mutations in the PCGF2 gene that results in learning difficulties, impaired growth, and distinctive facial features that include a large forehead and sparse hair.
Mrs Fisher had been through years of uncertainty, not knowing how her son’s development would unfold.
Following Mungo’s diagnosis, she found comfort in being able to connect with another family, and forming a Facebook support group.
She said: “When I first saw a picture emailed to me of the other family’s child it was really emotional. We’d always looked around for children who might look like Mungo – and here was a child in Australia who could have been his sibling.
“For a few months it was just us two families, but then it slowly started to grow. We now have families from countries including America, Brazil, Croatia, Indonesia... it’s devastating to learn that your child has a rare genetic disorder, but getting the diagnosis has been key to bringing us together.”
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.”