The odds of children having a genetic condition which causes learning difficulties and tumours have been dramatically cut, thanks to genetic analysis led by The University of Manchester and Central Manchester University Hospitals NHS Foundation Trust.
Writing in the journal EBioMedicine, the researchers have identified the underlying genetic mutation which causes neurofibromatosis type 1 (NF1). By RNA testing 361 patients, the researchers were able show that the probability of a child having the severest ‘constitutional’ form of the condition after negative genetic testing is not 6 in 9, but 1 in 9.
Professor of Medical Genetics and Cancer Epidemiology at The University of Manchester and Saint Mary’s Hospital, Gareth Evans, led the study. He said: “The severe form of NF1 can be a terrible illness and to be able to reassure parents that it is less likely that their children will be diagnosed with it will take a significant weight off their shoulders.”
Read more about the NF1 study on the University of Manchester website.