The PhenoSearch facility within the Care and Trial Site Registry (CTSR) allows users to enter information in order to seek and contact colleagues who see patients or families with a similar phenotype. Those already registered with the CTSR are now able to view cases already posted and identify those of research interest where collaboration might be possible.
This is a really important and significant expansion of the CTSR which will make it easier for researchers and clinicians across the world to share information about puzzling cases or undiagnosed patients and which will hopefully facilitate collaboration between groups through ‘match-making’ those with similar cases.
PhenoSearch allows users to list a working diagnosis, description of clinical phenotype, results of any investigations, mode of inheritance and photos with the appropriate consent. Other members of the CTSR will be alerted to the new post by email and can view the details securely by logging in.
The addition of this new facility and the expansion of the CTSR to cover neurodegenerative conditions was undertaken as part of an EU FP7-funded research project into rare neuromuscular and neurodegenerative disease, Neuromics.
To find out more about this development of the registry, to view posted cases or to submit details of your own patients, simply log on to your CTSR account and select the ‘PhenoSearch’ option from the left hand menu.
If you have any technical questions, please contact Kirsten König.
For general queries about Neuromics, contact Cathy Turner.