A study analyzing the genetic code of thousands of children with unexplained genetic disorders and their parents has led to the diagnosis for roughly 40% of them and brought the identification of 60 new diseases. The study, published Wednesday in the New England Journal of Medicine, notes that "finding a molecular diagnosis is challenging but can have profound lifelong benefits" thanks to the potential for better care. The Deciphering Developmental Disorders study was a 10-year effort involving the UK's National Health Service, universities, and the Sanger Institute—which specializes in DNA analysis and involved more than 13,500 families from the UK and Ireland.
Each had a child with a severe developmental disorder thought to be caused by just one genetic change, per a press release. But despite having had testing done via the NHS, their disorders were still undiagnosed. Sanger says it sequenced genes from all families’ genomes in its search for precise diagnoses, and it came up with about 5,500 of them. Specific new findings included Turnpenny-Fry syndrome, reports the BBC. It is characterized by adverse physical growth patterns, learning disabilities, and physical features including fine, thin hair and a large forehead. The DDD study enabled physicians to diagnose one girl with Turnpenny-Fry by the age of one month.
Speaking to the BBC, study co-author Caroline Wright said the team was "able to find new genetic conditions, which means that not only people in the study benefit, but there are huge benefits to future generations." Wright continued on to say that "a genetic diagnosis is hugely important to families" because it gives them reason to connect with "other families who might be affected by the same condition, and hopefully target much more personalized management and ultimately treatment."
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