Patrick T. Harrison Department of Physiology, University College Cork, Ireland Cystinosis is caused by a defect in a protein called cystinosin. To understand the role of this protein, imagine the acid-rich organelles inside every cell…
There have been some changes behind the scenes at the Cystinosis Foundation UK that I would like to announce, which have been brought about by the retirement of our former treasurer, Paul Doyle. Paul was…
Issue 16 (January 2009) of our newsletter has recently been released and all members should now have their copy. And a bumper edition it is too, with stories on research, medical notes and experiences of…
16th February 2009 Lauren Ellis, Manchester My name is Lauren and I was diagnosed with Cystinosis when I was 18 months old. I was always a very sickly baby but when my mum took me…
Several years ago, the Cystinosis Foundation UK set out to raise £100,000 to support research that would help improve treatments for Cystinosis. It was a lofty challenge for such a small organisation, but by December…
Dr William van’t Hoff, Great Ormond Street Hospital, London The Cystinosis Foundation UK are very pleased to be involved with a new study aimed at furthering our understanding of the effects of Cystinosis in adult…
Mrs Dale, Ridgeway School, Derby (www.ridgewayprimary.com) When I was first told that I was going to have a child with Cystinosis in my class, I have to admit I was clueless. It was a condition…
Dr Neil Dalton of The Evelina Childrens Hospital, London. “The importance of white cell cystine measurements in the diagnosis and clinical management of patients with cystinosis cannot be over emphasised. The measurement is particularly valuable…
Professors Roz Anderson and Paul Groundwater, with Pratap Suryadevara and Stephanie Cannell, University of Sunderland, UK, in collaboration with Professor William van’t Hoff, Great Ormond Street Hospital, London, UK. Summary By John Terry. The prodrug…
Some of you may have noticed that the website www.cfsn.co.uk is no longer available. We are sad to report that the Cystinosis Family Support Network has indeed ceased to exist. The Cystinosis Family Support Network…