Thousands receive diagnosis after 60 new diseases found
Thousands of children with severe developmental disorders have finally been given a diagnosis, in a study that found 60 new diseases.
Children, and their parents, had their genetic code - or DNA - analysed in the search for answers to their condition.
There are thousands of different genetic disorders. Having a diagnosis can lead to better care, help parents to decide whether to have more children, or simply provide an explanation for what is happening.
The Deciphering Developmental Disorders study, conducted over 10 years in the UK and Ireland, was a collaboration between the NHS, universities and the Sanger Institute, which specialises in analysing DNA.
Among the findings, researchers discovered Turnpenny-Fry syndrome.
Jessica Fisher's son, Mungo - who took part in the study - was diagnosed with the syndrome.
Jessica subsequently started an online support group for the syndrome, which is now made up of 36 families from around the world, including America, Brazil, Croatia and 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," said Jessica.
Source: BBC News, 13 April 2023