Genetic link to foetal disorders studied

December 8, 1995

Almost one in 20 babies are affected by some kind of malformation during their early development in the womb.

But while scientists are making regular advances in understand-ing the cause of malformation, some key questions remain unanswered.

Now researchers at Oxford University have been awarded over Pounds 840,000 by the Wellcome Trust to study the genetic link leading to two important disorders which bring serious abnormalities in babies.

Andrew Wilkie, head of molecular dismorphology at Oxford's Institute of Molecular Medicine, is to lead a research project looking into the causes of disorders of the eye, lip, palate, and inner ear, as well as a serious condition known as Apert Syndrome - which affects one in 65,000 children.

In Apert Syndrome, the bones of the skull are abnormally developed and the fingers and toes are fused, leaving babies requiring extensive surgery and often suffering from breathing problems and learning difficulties.

Earlier this year, Dr Wilkie's group identified the altered gene that causes Apert Syndrome, but further work is needed to focus on why these genetic alterations occur and why they result in these particular malformations of the skull, fingers and toes.

Dr Wilkie said the research should provide insights into not only malformations, but also the development of the foetus in general.

The work of his group will make use of information arising from the Human Genome Project, which aims to provide a complete catalogue of human genes and their positions along human chromosomes, and will involve clinicians as well as basic scientists.

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