In the early 1970s, doctors were good at diagnosing TSC from its symptoms, but no one knew what caused it or how to treat it. The Tuberous Sclerosis Association (TSA) formed in 1977 to support affected families, encourage research, and provide information. They started with a membership of 50 families and £25.
The TSA worked hard to generate £30,000 for research into TSC. They advertised a research grant in the British Medical Journal and, after two attempts, received two positive responses. The money was awarded and the research into finding the genetic mutations behind TSC began.
At the same time, the TSA set up the first international TSC conference for researchers. This stimulated TSC research by facilitating interactions between researchers and giving them a platform to speak about their work. Furthermore, the TSA set up specialist clinics and ran both patient and professional days through them, keeping all stakeholders engaged.
By 1993, a large UK research team had isolated the TSC2 gene. Five years later, the TSC1 gene was found. The functions of the genes took a further five years to figure out, as the pathway the genes were associated with was unknown. A lucky break came when a scientist was investigating the genes behind the growth pathway in yeast. He realised the growth inhibiting mechanism looked very similar to that previously identified in TSC patients.
More research found the TSC genes code for a protein which inhibits another protein called mTOR. mTOR instructs cells to grow and divide. In TSC, the inhibiting protein is not produced correctly, meaning mTOR is not inhibited and cells divide uncontrollably. This finding meant researchers could start identifying drugs which would reduce the activity of mTOR.