Tuberous Sclerosis Association
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Ann Mercy Hunt
MBE Mbe may refer to: * Mbé, a town in the Republic of the Congo * Mbe Mountains Community Forest, in Nigeria * Mbe language, a language of Nigeria * Mbe' language, language of Cameroon * ''mbe'', ISO 639 code for the extinct Molala language Molal ...
(25 October 1938 – 25 June 2014) was a British medical researcher and campaigner. She co-founded the Tuberous Sclerosis Association and became a researcher into the
tuberous sclerosis complex Tuberous sclerosis complex (TSC) is a rare multisystem autosomal dominant genetic disease that causes non-cancerous tumours to grow in the brain and on other vital organs such as the kidneys, heart, liver, eyes, lungs and skin. A combination ...
. Her youngest son died from the condition aged 13. In 1997 the
TSC2 Tuberous Sclerosis Complex 2 (TSC2), also known as Tuberin, is a protein that in humans is encoded by the ''TSC2'' gene. Function Mutations in this gene lead to tuberous sclerosis. Its gene product is believed to be a tumor suppressor and is a ...
gene was identified by a European consortium supported by her organisation.


Life

Hunt was born in
Welshpool Welshpool ( cy, Y Trallwng) is a market town and community in Powys, Wales, historically in the county of Montgomeryshire. The town is from the Wales–England border and low-lying on the River Severn; its Welsh language name ''Y Trallwng'' m ...
in 1938. Hunt went to
City of London School for Girls (''O Lord Direct us'') , established = 1894 , closed = , type = Independent day school , religion = , president = , head_label = Headmistress , head = Jenny Brown , r_head_label = ...
before taking Chemistry at Cambridge University. She married John Hunt as they both worked in research in America and in the UK, where she learnt about research techniques. John became an academic in Oxford. She had a son who suffered from Tuberous Sclerosis and she was surprised to find that there was so little information or research into the condition. Her youngest son died from the condition aged 13. She founded the Tuberous Sclerosis Association in 1977. Ann got involved with the research required and worked on a database of the behavioural and physical aspects of the disease. She used these to publish academic papers on the condition and in 1993 she became the TSA's research director. She was credited with making the research happen. In 1997 the
TSC2 Tuberous Sclerosis Complex 2 (TSC2), also known as Tuberin, is a protein that in humans is encoded by the ''TSC2'' gene. Function Mutations in this gene lead to tuberous sclerosis. Its gene product is believed to be a tumor suppressor and is a ...
gene was identified by a European consortium supported by her organisation. The gene's identification enabled a test to be created and the development of drugs that can be used to treat the condition. In 2002 she received an MBE for her work with the Tuberous Sclerosis Association. Her husband, John, died in 2012 and she died in 2014.


References

{{DEFAULTSORT:Hunt, Ann Mercy 1938 births 2014 deaths People from Welshpool Medical researchers Women chemists Welsh chemists People educated at the City of London School for Girls