THE SEARCH for the defective genes which cause a rare debilitating syndrome has led to a discovery which could also provide clues to how obesity and diabetes runs in families.
Doctors have found the first of seven genes responsible for Bardet- Biedl syndrome, (BBS) which is hereditary and results in a series of disabling conditions. Babies born with the syndrome frequently have extra fingers and toes, but it often goes undiagnosed for years.
Children go on to have learning difficulties, suffer obesity and eventually become blind. As adults they are prone to diabetes and renal failure.
The current research is just one genetic project which is being carried out at the Institute of Child Health. It is supported by the charity Jeans for Genes which encourages people to pay to wear denim to work to raise money. Singer Billie and band Precious are among the celebrities which supported a Jeans for Genes day last Friday.
Doctors at the Institute of Child Health at Great Ormond Street Hospital have been searching for the defective genes which cause the syndrome for almost a decade.
Working with colleagues in America and Canada, Dr Phil Beales, a leading authority on the syndrome, has identified one of the seven defective genes which causes the syndrome. Only around 500 families are in Britain have been identified as carries of the syndrome which is not always passed onto their children.
However, the breakthrough should not only lead to prenatal testing for the families with the syndrome, but will start to unlock the mystery of inherited obesity, Dr Beales hopes.
He told the Evening Standard: "I wanted to look at the way obesity and diabetes run in families. There is no doubt that there is a genetic component to obesity. We all know fami-
lies where parents and children are overweight. Some people think it is because they have the same poor diet, which is not necessarily true."
The gene which has been identified in Bardet-Biedl sufferers is responsible for folding proteins. If they are not properly folded, proteins cannot perform their designated function, leading to disease.
Dr Beales will now carry out research to discover if the same gene present in families which suffer from obesity and diabetes and may have a less serious version of BBS.
The discovery also holds hope for the families with the disease and could lead to a way of preventing blindness. Dr Beales added: "The discovery offers hope for BBS sufferers.
We may, for example, understand how their blindness occurs and be able to halt its progression in years to come."
Mother-of-three, Drina Parker has one son, Richard, who was diagnosed with BBS when he was three. Now 19, Richard is blind, but is studying for business qualifications at a special college. She went on to set up a charity to provide support for parents and encourage research.
Mrs Parker added: "This is too late for Richard, but hopefully by the time my sons have children there will be prenatal testing for the syndrome."
Mrs Parker helped to put Dr Beales in touch with families in America and in Newfoundland, Canada, where there is a cluster of families who originally emigrated from South-West England who carry the disease. Forty per cent of the BBS population in Newfoundland carry the defective gene which has been identified.
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