Project award: The TSC1 and TSC2 Variation Databases
Grant holder: Professor Sue Povey
Researcher: Dr Rosemary Ekong
University College London
This project addresses an important clinical problem, that of providing accurate and timely diagnosis for TSC patients. It is essential for the TSC patients and families that early diagnosis of TSC is available and accurate; access to the right clinicians, care and treatments depends upon it.
The project will continue and expand the TSC1 and TSC2 variation databases which were started in 2005. The TSC1 database currently contains 934 publically available entries which represent 540 different variants. The TSC2 database contains 2493 publically available entries representing 1560 different variants. The databases catalogue changes in the two genes together with information about the clinical effect of the changes, gathered via the literature and increasingly from diagnostic labs worldwide.
The databases are also a valuable resource for researchers that will help lead to a better understanding of gene function and ultimately result in improved treatment. This is a project with global relevance and global impact.
This work has been funded by the TSA in both 2013 and 2015. It is jointly funded with the Tuberous Sclerosis Alliance (USA).