Our friends in Australia from the Noonan Syndrome Awareness Association, are collaborating with Australia’s National Human Genome Research Institute on a facial analysis software diagnostic tool for Noonan Syndrome. It would allow clinicians to make accurate diagnosis of Noonan Syndrome instantly just by taking a photo of the patient. This is potentially a very exciting development in 2 ways – they say it could reduce misdiagnosis dramatically from 50% to 4% and it could also mean diagnosis at a much earlier age which would mean earlier effective intervention.
They now need more people with Noonan Syndrome who are of non-European descent for their study and have asked for help from NSA member families in the UK. Can you help? Find out more about it by following this link – https://noonansyndrome.com.au/diagnosis-by-facial-analysis-an-exciting-advance-for-noonan-syndrome/ where you will also find a link to the information sheet and consent form.