Neurogenetic Diseases: Neurofibromatosis 1 & 2 (NF1 & NF2)

Neurofibromatosis types 1 and 2 (NF1 & NF2) are neurogenetic diseases which are also classified as ‘tumour suppressor genetic disorders’. These two genetic diseases affect neural development, they can cause intellectual impairment, brittle bone, and skin & neural sheath tumours which can be benign or malignant. The impacts of these diseases are very variable between individuals. Half of the cases are inherited, the other half being due to new gene mutations. They are one of the most common genetic diseases, having a combined prevalence equal to that of cystic fibrosis. NF1 is more common than NF2. Despite this, public and even professional awareness is remarkably low, a factor which may cause misdiagnosis.

Current research projects included the development and validation of new disease specific assessment questionnaires to measure impact on patient quality of life and monitor therapeutic outcomes. Research is in collaboration with the four national centres for NF (Guy’s & St Thomas’s London, Manchester University Hospitals Foundation Trust, Radcliffe Oxford, Addenbrooke’s Cambridge).

For more information, contact John F Golding, [email protected].