mTOR Pathway Disease research
The mTOR pathway rare diseases encompass 14 known rare diseases, affecting approximately 10,000 individuals in the UK. The mTOR pathway is a set of molecules in our cells that sense a variety of inputs and regulate processes such as cell growth and metabolism. Rare genetic mutations affecting the mTOR pathway can cause it to go into overdrive, resulting in diseases. Symptoms vary greatly across these diseases from benign tumours in multiple organs to brain malformations causing epilepsy.
The mTOR Pathway Diseases node is led by Professor Joseph Bateman from the Department of Basic and Clinical Neuroscience (BCN). Professor Deb Pal (BCN) and Dr Frances Elmslie (St George’s) are the co-investigators, with Dr Laura Mantoan-Ritter (BCN) as the deputy lead. Dr Charlotte Tye (Psychology) will lead the Public-Patient Engagement Involvement (PPIE), a key part of the node activities, working with partner charities. The node will bring together 13 UK universities, research institutions and NHS trusts in partnership with Tuberous Sclerosis Association, Epilepsy Research UK, the National Disease Registration Service in NHS England and industry partners including Oxford StemTech, Jazz Pharmaceuticals, Plusultra Pharma and Amplexa Genetics.
Team members
Professor Joseph Bateman (Lead), King’s College London
