Research into abnormal tissue conditions could benefit thousands | Action Medical Research

Research into abnormal tissue conditions could benefit thousands

17 August 2000
London specialists are hoping to help sufferers of genetic disorders that affect the skin, hair, teeth and nails, thanks to a cash boost by Action Research. The leading medical research charity, which is famous for its efforts to overcome disease and disability, has awarded almost £88,000 in funding to experts at St Thomas' Hospital, Kings College, London. The development of normal skin, hair, teeth and nails is physically, socially and psychologically important. Unfortunately, this is not the case for about two to three thousand people in the UK who are born with genetic abnormalities that interrupt normal tissue development, known as 'ectodermal dysplasias'. In its mildest form, ectodermal dysplasias can manifest itself with slightly misshapen teeth and discoloured stripes on the skin. But in another case, it might cause a newborn baby to have red, raw and peeling skin, and its body to dangerously overheat. With very little known about what causes these conditions, and how to categorise patients, the two-year project aims to discover as many relevant gene abnormalities as possible. This might then provide the basis for a more precise diagnosis and foundation on which to plan newer forms of therapy, thereby helping prevent unnecessary family heartache or confusion. Professor John McGrath, of St Thomas' Department of Cell and Molecular Pathology, who will be assisted by fellow researcher Neil Whittock, says: 'Understandably, people who have skin that looks scaly or dry, no eye brows or eyelashes, loss of scalp hair, or poorly formed teeth are very self conscious. 'We need to try and sort out the causes and characteristics of the conditions in more detail, to give us better scientific understanding. But equally important is giving the affected families and sufferers better genetic counselling and advice on what to expect. 'We are delighted to be given our second Action Research award to help us undertake further vital work in this area.' The study, which will include at least 2-300 patients, will build on a previous Action Research grant Professor McGrath worked on, which investigated blistering skin disorders. The team was successful in discovering more about the biological abnormalities that lead to severe forms of inherited skin blistering. Earlier this year the charity launched its Touching Lives campaign, which aims to raise £1.5m for vital medical research to benefit children and families across the UK. Its website offers a comprehensive insight into the charity and the work it funds, along with other online fundraising activities. Visit the site at For further information, please contact Nicole Duckworth in the Action Research press office on 01403 327403 Fax: 01403 210541, or email
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