The research team at Addenbrooke’s in Cambridge (this includes Mr Martin Snead, Dr Peter Bale and Dr Robert Smyth) have been looking for some volunteers to spend 5 minutes and help with a current research programme aimed at developing a screening tool to help diagnose Stickler Syndrome at an earlier age in children.
The qualification for this research was fairly specific and we are really grateful to everyone who did respond after several posts onsocial media and requests through the charity ‘Briefs’ e-Newsletter. The qualifying criteria was:
1. Be between 4-10 years of age
2. Have a diagnosis of Type 1 Stickler Syndrome (also known as a change in the COL2A1 gene)
3. Not have another connective tissue or genetic diagnosis, or a previous diagnosis of Perthes Disease.
It is really important to have the numbers of people necessary to complete these research projects so the charity will be looking at how we best approach this for future research.
If anyone still fits with this criteria please do let the charity know by emailing in the first instance to contact@stickler.org.uk where we can pass on your details to the research team at Addenbrooke’s.
