Gene found for potentially-fatal disorder | Action Medical Research

Gene found for potentially-fatal disorder

6 August 2001
Action Research funds further detective work Researchers have tracked down the gene responsible for a potentially fatal disorder that can severely damage sufferers’ kidneys. The team of scientists is now hoping to shed further light on the distressing illness, with backing of almost £128,000 from leading medical research charity, Action Research. Lead researcher Dr Sally Feather, of the Institute of Child Health, University College London (UCL), says: ‘We are extremely pleased to be given this funding as it provides an opportunity to discover more about this important clinical disorder, which can cause extreme defects. ‘Knowledge of the function of the gene will be of considerable benefit in understanding how resulting malformations occur.’ Oral-facial-digital syndromes (OFDs) are disorders where individuals are born with malformed faces, hands and feet. The most common form is OFD1, a potentially life-threatening disorder where patients also have cysts in the kidney, often leading to kidney failure, requiring dialysis and transplantation. OFD1 affects only females because affected males are miscarried. This research group recently discovered the gene responsible for OFD1 and the aim of the new three-year project is to investigate the function of the gene. This will help improve our understanding of how the malformations and kidney disease develop, and could lead to genetic counselling and testing for families. Dr Feather, who is working alongside Professor Adrian Woolf and Professor Sue Malcolm, joined a growing bank of gene-hunters trying to identify the causes of genetic disorders. She began her research into OFD when she was awarded a three-year Action Research Training Fellowship in 1996. Based at UCL’s Clinical and Molecular Genetics Unit and the Nephro-Urology Unit, Dr Feather adds: ‘Diagnosing OFD is not easy, as there are more than eight different forms of OFD and it can be difficult to distinguish between them. In addition, there are a number of other syndromes which have similar features. ‘However, the medical complications that can occur may be very different, meaning accurate diagnosis is crucial. This will be helped considerably by the recent discovery of the gene.’ Action Research, which is fast approaching its 50th anniversary, is famous for developing the UK’s first polio and rubella vaccine, and bringing ultrasound into the medical world. The charity’s director of campaigns and communications, John Grounds says: ‘As many as one or two babies out of every hundred born will have a disease which they have inherited from one or other of their parents. In order to improve the outlook for these babies and enhance their support and care, it is vital we try and identify and understand the genetic factors of these disorders.’ Action Research is dedicated to helping overcome disease and disability for children, families and the elderly across the UK. The charity’s Touching Lives Campaign aims to raise £2m for vital medical research and more details can be found at For further information and interviews, please contact Nicole Duckworth in the Action Research press office on 01403 327403 Fax: 01403 210541, or email ISDN facilities are available. Fact-file: *Once diagnosed, individuals with OFD may need a range of treatments. This can include corrective surgery and, quite often, extensive dental reconstruction. *The associated polycystic kidney disease requires close medical monitoring and treatment, for example kidney dialysis and transplantation. Some sufferers also develop learning difficulties, necessitating neuro-disability assessments and support. *Cysts can occur in a number of other organs including the ovary and pancreas, meaning possible further medical treatment. *The disorder, however, varies considerably in severity from person to person even within a family. *Blood samples have been taken from consenting patients of all ages, and their families. The majority of patients have been enlisted from the chronic renal clinic at Gt Ormond St Hospital, and other centres across the UK. *The research team recently had a paper published in The American Journal of Human Genetics (2001) 68:569-576
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