The neurofibromatosis team is an active and diverse team composed of consultants, clinicians and researchers employed by both the University and the Trust. We conduct translational research covering neurofibromatosis and related conditions, from basic science through observational studies to clinical trials.
- Gene discovery. Work has been carried out over a number of years and has been fundamental in discovering the genetic basis of a range of conditions including SMARCE1 meningioma predisposition (2013), and LZTR1 schwannomatosis (2015)
- Clinical diagnostics. We have a widely recognized multidisciplinary team providing top level clinical and diagnostic services for patients with genetic disorders related to neurofibromatosis including NF1, NF2, schwannomatosis and SMARCE1 meningioma predisposition.
- From discovery to translation. The translation of such discoveries into improved health provision is a major aspect of our work. Our team has developed next-generation sequencing (NGS) panels including recently discovered genes SMARCE1, LZTR1 and SMARCB1, as well as offering highly sensitive RNA testing for NF1.
- We work closely with patient groups especially the Neuro Foundation to ensure our work is relevant to patient needs.
The team also provides direct support to the joint genetics & ophthalmology clinics hosted at the Manchester Royal Eye Hospital (MREH). We work in close collaboration with other leading sites in the UK including Oxford, Cambridge and Guy’s Hospital, London, and the NIHR Clinical Research Facility (CRF).