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We have a successful history with research – but we need to do more

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Professor Mike Patton, Medical Adviser for the Noonan Syndrome Association, has been involved with conducting genetic research into the syndrome since 1986. In the early days it was Professor Patton who helped to uncover many new discoveries, including learning about the feeding difficulties, and the natural history of the cardiomyopathy in the syndrome. In the first 3 years around 15 clinical papers were published on the condition and after 15 years, the team at St Georges Hospital in London was able to confirm that the SHP2 gene, or PTPN11 gene as it is now known, was a cause of Noonan’s in about half of all cases.

The gene test for PTPN11 is now used to test children with short stature and congenital heart disease throughout the world and it is estimated that more than 50,000 children have this test each year.

The gene mapping in Noonan syndrome is now more or less complete and the team at St Georges have more recently focused on understanding the lymphoedema aspects of the condition.

A few years ago, the NSA was able to put £20k into new lymphoedema research and off the back of that the hospital were able to raise a further £2m to continue and extend the research that will directly benefit many Noonan Syndrome families.

But as Professor Patton says, there is more research to do on the RAS-MAPK pathway and to understand how it may be modified by new drugs. The discovery of the PTPN11 gene changed the direction of the Noonan research. The PTPN11 gene is in the RAS MAPK pathway and cancer scientists have a good understanding of this pathway. They are busy developing new drugs to treat cancers affecting other genes in the pathway and Noonan Syndrome can directly benefit from this research. Professor Patton told us “I hope that in the next 5-10 years we will see dramatic results from new medications in some of the most serious aspects of Noonan Syndrome such as cardiomyopathy or lymphoedema”. This could be a major breakthrough as tragically currently the complication of Lymphoedema can be life limiting in some individuals.

The charity’s expert medical advisers have highlighted other areas for future research, including joint and muscle pain and epilepsy. This research is vital for improving lives of those with the syndrome. The NSA is committed to supporting research, but to do this it desperately needs more funds. 

Any investment and donation to the charity could make a major impact on the lives of many. Businesses or investors who want to support social responsibility can really be part of the next part of the journey of this small but professional organisation. If you would like to donate or become more involved in this charity then please contact us, we would absolutely love to hear from you.

To help:

Contact Us – Email the charity manager

info@noonansyndrome.co.uk