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£1 million boost to our Genetics Service

Our Genetics Service has received a welcome boost in treating patients who suffer from the genetic condition, Neurofibromatosis Type 1 (NF1). For the next five years, the service at Saint Mary’s Hospital and the Royal Manchester Children’s Hospital will lead the national response for the North of England, receiving £1 million per year. The funding will allow us to bring all of the specialists to a Complex NF1 Clinic, one place on one day, so instead of the patient having several appointments, they simply have one. The new service was officially launched on Friday 4th September with a day of lectures and discussions, including lectures from Professor Kathryn North who visited from Sydney, Australia. Dr Sue Huson and Professor Gareth Evans, both Consultants in Genetic Medicine will lead the clinic for the North, whilst Dr Rosalie Furner, Consultant Neurologist at Guys and St Thomas’ in London will lead the clinic for the South of England. NF1 affects one person in every 2,500; therefore it is more common than Cystic Fibrosis and Muscular Dystrophy, but unlike these conditions, NF1 does not have the same high profile amongst the general population. The condition mainly affects the nervous system and the skin. Neurofibroma (benign tumours) can form on nerve coverings on or under the skin and can cause disfigurement. Most people with NF1 experience skin changes and do not suffer from further health problems. However, some NF1 patients can have major health problems. These can include benign and malignant nerve tumours, abnormalities of bone, learning difficulties and some particular kinds of brain tumour. This can involve having to see a number of different specialists including Geneticists, Neurologists, Neurosurgeons, Plastic Surgeons and Ophthalmic (Eye) Surgeons. It is NF1 patients with the rare and serious problems who will benefit from the funding provided by the National Commissioning Group. Dr Huson said: “Diagnosis for NF1 patients can sometimes be a complex and lengthy process. This is because for each health problem NF1 patients suffer, they have to be referred to a different department. The problems are often very difficult to diagnose and treat. This causes a lot of worry, and sometimes, the length it takes to get a correct diagnosis can mean the condition has then worsened. “With this extra funding, it will no longer be a problem. Our patients will be able to see all of the specialists in the same appointment, instead of the usual four or five. It really will make a huge difference to them.” The funding has also enabled the introduction of genetic testing for rare subtypes of NF1, some of which are not associated with any major problems. This will allow some families to be reassured they are no longer at risk of the serious problems.