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Neurofibromatosis

Our research into neurofibromatosis, and other cancers of the nervous system, brings together an active and diverse team of consultants, clinicians and researchers working in both the University and Manchester NHS Trusts.

We conduct translational research covering neurofibromatosis and related conditions, from basic science through observational studies to clinical trials.

Gene discovery

Our work has been fundamental in discovering the genetic basis of a range of conditions including SMARCE1 meningioma predisposition, and LZTR1 schwannomatosis.

Clinical diagnostics

We have a widely recognised 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.

We also provide direct support to the joint genetics and ophthalmology clinics hosted at the Manchester Royal Eye Hospital.

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.

Our funding partners include the Children's Tumor Foundation, Worldwide Cancer Research and the National Institute for Health Research.

Clinicians and researchers

  • Professor Gareth Evans
  • Dr Miriam Smith
  • Dr Emma Burkitt Wright
  • Dr Grace Vassalo
  • Dr Andrew Wallace
  • Naomi Bowers
  • Simon Tobi
  • Professor Andrew King
  • Professor Simon Lloyd
  • Dr Stavros Stivaros
  • Dr Martin McCabe
  • Dr Shruti Garg
  • Simon Freeman (Salford Royal Foundation Trust)
  • Scott Rutherford (SRFT)
  • Charlotte Hammerbeck-Ward (SRFT)
  • Dr Roger Laitt (SRFT)
  • Dr Owen Thomas (SRFT)
  • Dr Mark Kellett (SRFT)
  • Dr John Ealing (SRFT)
  • Dr Catherine McBain (The Christie)
  • Dr John-Paul Kilday (Royal Manchester Children's Hospital)
  • Martin O’Driscoll (Central Manchester Foundation Trust)
  • Deborah Mawman (CMFT)