Genetics of oral-facial-digital syndromes and kidney disease

This research was completed on 19 July 2004

Project Leader	Dr S A Feather, MB BChir, MRCP, PhD, Professor A S Woolf, MA, MD, FRCPCH and Professor S Malcolm, PhD, FRCPath.
Location	Regional Paediatric Nephrology Unit, St James' University Hospital, Leeds, the Clinical and Molecular Genetics Unit, and the Nephro-Urology Unit, Institute of Child Health, London.
Grant awarded	13 March 2001
Start date	20 July 2001
End date	19 July 2004
Grant amount	£127,773.00
Grant code	SP3718

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 this project is to investigate the function of the gene. This should improve our understanding of the development of these malformations and kidney disease and also offer the prospect of genetic counselling and testing.