Special Education 2000. The paper explaining the discovery has just been published in the prestigious international scientific journal Science. Tuberous Sclerosis affects approximately one in 6,000 newborns. People with the condition can develop tumours in the brain, skin, heart, lungs and kidneys, with different sumptoms appearing at different stages of life. But Tuberous Sclerosis can also be devastating.
Heart tumours in babies and brain or kidney tumours in adulthood can be fatal.
Brain tumours also often cause mental disabilities, epilepsy, autism or attention deficity-hyperactive disorder. The newly-identified gene is thought to be a tumour suppressor, which normally operates by controlling cell growth. The collaboration discovered 30 different mutations in the gene, which stop its normal action and allow tumours to develop. Clearly the long term aim is to develop a treatment for Tuberous Sclerosis. Another exciting prospect is that genes like this are often involved in cancers, so this may shed light on the cancer process in general.