Neurofibromatosis type 1
This research was completed on 26 August 2003
|Project Leader||Dr D Baralle, BSc, MBBS, MRCP (Paed).|
|Location||Department of Medical Genetics, Addenbrooke's Hospital, Cambridge.|
|Grant awarded||21 May 2001|
|Start date||27 August 2001|
|End date||26 August 2003|
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Neurofibromatosis type 1 (NF1) is a relatively common genetic disease which causes significant abnormalities including learning difficulties, tumours of the central nervous system and skeletal deformities in children. The function of the gene affected in NF1 has not yet been discovered, hence little is known about the mechanisms of this disease. Dr Baralle’s project aims to take advantage of advances in genetic analysis to develop a rapid technique for the analysis of the NF1 gene. The results of this project should aid the development of genetic tests for clinical use and advance our understanding of disability caused by this disease.