Research is an integral part of the history and future of Amy and Friends and enables us to improve the lives of those with CS/TTD through better management and treatments and in understanding the underlying causes of these syndromes.
As a charity, we have been primarily patient support focused. We also work in collaboration with the scientific and medical professionals across the globe to aid research. Our aim is to engage with rare disease research, to share experience and knowledge of our genetic conditions with others and network with similar organisations.
Most importantly, we wish to share and publish updates regarding research to our members and patients.
CS – Growth chart
Thank you to the families who have sent growth charts to us. Our collaborator, Prof Vincent Laugel has developed a specific growth chart for Cockayne Syndrome (above). If you would like us to email this to you please contact us.
We are still collecting growth charts to help develop a specific one for Trichothiodystrophy so if you are able to, please send any you have been given for you child/young person to us directly: info@amyandfriends.org
