Genetic test for Von Hippel-Lindau disease
The last 15 years have seen a swelling of medical interest in a serious genetic disorder called Von Hippel-Lindau disease, or VHL. People with VHL experience an insidious growth of cysts and tumours on many parts of the body, including the eyes, brain and kidneys. They can suffer a range of symptoms, from numbness and pain to sight problems and even paralysis. If a parent has the condition, their children have a 50 per cent chance of inheriting it. Other people may develop the disease from a spontaneous mutation.
Continuing a history of supporting genetic endeavours, Action Medical Research funded scientists at the Universities of Cambridge and Birmingham during the 1990s to study VHL. The team had a breakthrough in 1993 when, in collaboration with international colleagues, they identified the gene for the disorder. From this they developed a genetic test for VHL, which is now used across the UK.
Confirming diagnoses with this test frees people with a negative result from years of nerve-wracking screening tests. Most importantly, it helps those with a positive result to be treated the best way, preventing severe symptoms, serious operations and potentially fatal complications, including cancer. During these last 15 years, growing understanding of the genetics underlying VHL has therefore improved diagnosis and management of the condition, estimated to affect close to 2000 people in the UK and more than 200,000 globally.
In addition, the knowledge gained from studying this relatively rare disease may have much wider benefits, impacting on cancer sufferers. Insight into the VHL gene is illuminating mechanisms involved in cancer, particularly kidney cancer, for which we see more than 6000 diagnoses in the UK each year.