Thousands of children with severe developmental disorders have finally been given a diagnosis, in a study that found 60 new diseases.
Ednews informs via Telegraph that 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.
Taken individually the disorders are rare, but collectively they affect one in every 17 people in the UK.
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. It is caused by errors in one genetic instruction within our DNA and leads to learning difficulties. It also affects growth, resulting in a large forehead and sparse hair.
Jessica Fisher's son, Mungo - who took part in the study - was diagnosed with the syndrome.
At the time, he was one of only two people in the world to be diagnosed with it. The other child was in Australia, but Jessica recalls that the Australian child's physical similarities to Mungo were so strong they "could have been his sibling".