We’ve got three kids, all grown up now, but we also have a grandson who’s been diagnosed with Noonan’s. My youngest daughter is one of the 30% for whom they don’t know what caused the Noonan’s, but our grandson, her nephew, is under the 3D scheme being run by Cambridge University. The geneticist at Middlesborough who saw my daughter is waiting for the results of the 3D study to see whether there’s any links. How do we make sure all these studies are linked together and the results are correlated and we get the best benefit out of them?
The 3D Study was set up to look at 12,000 children that was later extended to adults across the UK who display intellectual disability. Enrolment has been really through genetic services. The study only stopped recruiting in April 2015 and it was a actually a much bigger task than people thought it was going to be to just deal with the sheer volume of samples in terms of new technology so the first few years – it lasted 5 years – were actually very much about getting the actual experimental processes to work. And we really only started to get a lot of results in the last 12 months. As part of that process, people can express an interest in research into particular genes and our intention is to take forward the rasopathy genes and to look at those patients who were identified through the 3D study as having one rasopathy disorder which would most commonly be Noonan Syndrome to see what we can learn because they would presumably be people who are less typical. We’ve already seen some people in Manchester through 3D and other studies who have been found to have Noonan Syndrome.
