Breakthroughs in genetic medicine

Genetic discoveries in recent years have changed our understanding of disease.

The BRCA1 and BRCA2 genes that predispose some women to a particular form of breast cancer can now be identified, but there are around 70 different genes involved in the disease.

The Long QT syndrome, an inherited disorder which can cause sudden cardiac death: those with a family history can be identified and forewarned, and doctors may even be able to give them a defibrillator to prevent fatal heart attacks.

A powerful genetic mutation was linked last year to 70 per cent of cases of malignant melanoma, the worst form of skin cancer. A drug is now being trialled to block the mutation.

Eight areas of the human genome were discovered to be linked to osteoarthritis, a crippling disease which affects one million British people. Scientistis said that it indicated an inherited risk of the disease.

In 2001 three genes were identified which are responsible for a form of congenital muscular dystrophy that affects one in 10,000 babies.

Breakthroughs in genetic medicine

This article appeared in the Observer on Sunday July 27 2003 on p19 of the Focus section. It was last updated at 00:55 on July 27 2003.

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