Julian Sampson is a clinical geneticist who has undertaken research into tuberous sclerosis for over 20 years. He headed the international team who identified and characterised the TSC2 gene that is the cause of tuberous sclerosis in most people with the condition and lead the Cardiff team in the international collaboration that identified the TSC1 gene that can also cause tuberous sclerosis.

His group in Cardiff, UK, also first identified the genetic cause of severe polycystic kidney disease that causes kidney failure in some people with tuberous sclerosis and were the first to show that mutations in the TSC2 gene cause more severe disease (more severe intellectual disability and epilepsy) than TSC1 gene mutations.

His group developed genetic tests for tuberous sclerosis and have provided these tests to the NHS in the UK and to health carers in over 20 other countries over the last decade.

Most recently he led a team of researchers from the UK and Switzerland who undertook a successful trial of a class of drug known as mTOR inhibitors to replace the action of the damaged gene in patients with tuberous sclerosis. This was a landmark breakthrough for people & families affected by TSC.