We are a group of scientists and doctors studying segmental overgrowth disorders. In these conditions there is abnormally increased growth affecting only one, or several parts of the body, but normal growth elsewhere. The purpose of this work is to improve understanding of the cause of these disorders, and to use this information to identify treatments, which we would like to test in future clinical trials.
After 3 years of recruiting patients and investigating gene changes causing patchy, asymmetric forms of overgrowth, we have made major progress in identifying the genetic cause in many patients. We have now turned this knowledge into genetic tests available on the NHS*, and are focussing on ensuring that patients and their specialists know how to access these services. We are now seeing far fewer new patients on our research facility, however we remain interested in unusual cases, and are happy to discuss this further.
If you are a new participant, we would still like to hear from you, and you will soon be able to sign up to our study via the Rare Disease secure online RUDY database – Expected to go live January 2018. This is an excellent platform enabling participants to self-enrol to our study and collate their medical history and add other relevant information, while providing us with a point of contact for follow-up, future cohort studies and clinical trials.
*Genetic diagnostic testing for Segmental Overgrowth is now available on the NHS via the UK Genetic Testing Network in Cambridge and Manchester.