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Wednesday, November 25, 1998 Published at 18:47 GMT


Health

Genetic disorder afflicts thousands

Tuberous sclerosis can cause tumours in the brain

A charity has launched a campaign to raise £5m for sufferers of a little known genetic disorder that can cause premature death.


Duncan Kennedy reports on the campaign launch
Tuberous sclerosis is an incurable disorder that causes tumours, epilepsy, mental handicap and autism.

It affects one in 7,000 people, and one baby is born each week in the UK with the disorder.

The Tuberous Sclerosis Assocation provides a support system for parents and families of sufferers, and funds research into the disorder.

It has established specialist TS clinics, which offer expert advice and medical treatment.

The aim of the new appeal is to raise the profile of the disorder, as well as to raise funds that are desperately needed for continued support and research.

Tuberous sclerosis sufferers develop benign tumours in organs all over their bodies, which disrupt normal function. When the tumours occur in the brain they cause fits and learning difficulties.

If the fits are treated with anti-convulsive drugs at an early stage impact on brain functioning can be minimised.

However, GPs often do not recognise the symptoms until permanent damage has occurred.

Although tuberous sclerosis is an inherited condition, in 70% of cases no other member of the family has suffered from symptoms.

Genes identified


[ image: Philip Schofield backs the campaign]
Philip Schofield backs the campaign
Professor Sue Povey, of the Medical Research Council Human Biochemical Genetics Unit, said researchers had found that tuberous sclerosis was caused by mutations in two genes, TSE1 and TSE2.

The genes produce the proteins hamartin and tuberin, but scientists do not yet know how they influence cell growth and movement in the body.

Professor Povey said: "Tuberous sclerosis can cause problems in many families, partly because the sufferer may experience very difficult behavioural problems. It can be necessary to devote most of your life to looking after a child with this disorder."

Actor Philip Schofield and the cast of the London musical Dr Doolittle will help to launch the fundraising campaign on Thursday.

The Tuberous Sclerosis Association can be contacted on 01527-871898.



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