TUBEROUS SCLEROSIS: A New Drug Treatment

Professor Julian Sampson and other researchers at Cardiff University have pioneered a drug treatment for Tuberous Sclerosis. 

Tuberous sclerosis complex (TSC) is a rare genetic disorder where patients develop tumours in many organs, including the brain, kidneys and skin.  Those affected can develop epilepsy, autism, often have impaired renal function and the many skin lesions can be highly distressing.

Cardiff University led research has been instrumental in advancing our understanding of TSC pathology since the 1990s, when genes TSC1 and TSC2 which cause this condition were discovered and cloned. Since then many other signalling pathways, such as mTOR, implicated in TSC and other malignant conditions have been mapped out. However the major strength of Cardiff’s research into TSC has been the success in translating these findings into viable opportunities for patient care.

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Researchers have now found a drug to combat the tumour growth, and shrink existing tumours. The drug Everolimus blocks a signalling pathway called mTOR which is a key controller of cell growth, and hyper-activated in people with TSC.

However when treatment with Everolimus is stopped, tumours will regrow. The researchers are now trialling combinations of drugs which will kill affected cells, with the hope of preventing tumour regrowth for good and curing this condition. These trials are at early stages but are showing much promise.

By Kate Harding

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