Thousands of children with severe developmental disabilities have finally been diagnosed after a study revealed 60 new diseases.
Children and their parents analyzed the genetic code, DNA, in search of answers to their condition.
The latest study shows that there are thousands of different genetic disorders.
Getting a diagnosis can lead to better care, help parents decide whether to have more children, or simply explain what's going on.
The disorders are rare, but together they affect one in 17 people in the UK.
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A decade of research Deciphering developmental disorders, carried out in Great Britain and Ireland, is the result of collaboration between the National Health Service, universities and the Sanger Institute, which specializes in DNA analysis.
Among the findings, scientists discovered Turnpenny-Fry syndrome caused by mutations in a single genetic instruction within our DNA.
It causes learning difficulties, affects growth, and often leads to a large forehead and sparse hair.
The syndrome was diagnosed in Mungo, the son of Jessica Fisher who participated in the study.
At that time, he was one of two children who were diagnosed with this disorder.
The other child lived in Australia, but Jessica recalls that the physical similarities between the Australian child and Mungo were so strong that "they could have been brother and sister".
Jessica then started an online support group, which now consists of 36 families from all over the world, including America, Brazil, Croatia and Indonesia.
"It's devastating to learn that your child has a rare genetic disorder, but the diagnosis brought us closer together," Jessica said.
The study analyzed the genetic code of 13.500 families with unexplained disorders and was able to diagnose 5.500 of them.
The results, published in New England Journal of Medicine discover 60 new conditions.
They are generally not hereditary, but rather mutations that arose spontaneously at conception.
"We were able to find new genetic conditions, which means that they will not only benefit the people who participated in the study, but also future generations.
"Getting a genetic diagnosis is very important for families. This allows them to talk to other families who may be affected by the same condition.
"We hope it will also lead to personalized care and treatment," Caroline Wright, a professor at the University of Exeter, told the BBC.
A quarter of the children who were part of the research changed the type of treatment after they were given a clear diagnosis.
This type of genetic analysis is increasingly part of NHS treatment.
The discovery of turnpenny-free syndrome helped Sofia, daughter of Dasha Brogden, to be diagnosed with this type of health problem already at the age of one month.
Her diagnosis made everyone aware that heart disease was a possibility, and a scan led to Sofia, now three, having surgery when she was just two months old.
"The diagnosis really helped us understand what to expect.
"Compared to families who came before the condition was officially diagnosed, we were lucky," says Dasha, from Oxfordshire.
Watch the video about parents of children with rare diseases
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