Dr Sylwia Ammoun, Senior Research Fellow at Plymouth University Peninsula Schools of Medicine and Dentistry, has received backing from children's charity Action Medical Research, to investigate new drug treatments for neurofibromatosis 2 (NF2) – and the secret may lie in sequences of DNA from viruses that are millions of years old.
NF2 is a genetic condition which affects around one in 35,000 people in the UK. It tends to be diagnosed during childhood and early adulthood and results in people developing multiple benign tumours in the nervous system, sometimes as many as 20 to 30 in one place at any one time.
Treatment options for NF2 are limited to radiosurgery and/or invasive surgery. Surgery can be used to remove most tumours, although it carries a risk of causing problems, such as complete deafness and facial weakness. It cannot be used when tumours are located in multiple sites of the nervous system, or in sites where resection would carry too great a risk of fatal neurological complications.
Most people with NF2 eventually develop significant hearing loss, speech impairment, problems with balance and in some cases paralysis.
Dr Ammoun and her colleagues are investigating new drug treatments for NF2 – designed not just to find a way to halt or reverse the progress of the condition, but also to provide patients with a non-invasive reduced-risk therapy option.
In people with NF2, the DNA sequence of a particular gene mutates, and this can be inherited or appear by chance before birth. This results in the inability to produce a tumour-suppressing protein called Merlin.
The research team made an exciting discovery while investigating human tumour cells. They found that certain sequences of DNA which originated from viruses that inserted themselves into human chromosomes millions of years ago and which are normally inactive, become active in NF2 tumour cells.
"We think that the unusual activity of this DNA may cause NF2 tumour cells to grow," said Dr Ammoun. "We have shown that some drugs, which are used to treat viral infections, seem to block the action of this DNA and slow-down the growth of tumour cells. We are investigating this further to see if we can develop a much-needed new drug treatment for people with NF2."
She added: "We are immensely grateful to Action Medical Research for this vital grant which will help us to move closer to finding the best drug to deal with this pernicious and debilitating condition, and which can rob children and young adults of quality of life at an early age."
Action's Director of Research Dr Tracy Swinfield said: "Thousands of families across the UK are coping with the challenge of caring for a child with a condition for which there is no cure. At Action Medical Research, we believe passionately in supporting studies that aim to find out more about debilitating conditions like NF2, and help doctors develop effective treatments. Dr Ammoun and her team are dedicated to helping children and young people affected by this heartbreaking rare condition. We are delighted to be able to fund this important work."
Dr Robert Belshaw, Associate Professor in Genomics from Plymouth University School of Biomedical and Healthcare Sciences, is a co-applicant and collaborator on this project.
Picture caption: Dr Sylwia Ammoun at work in her laboratory
About Plymouth University Peninsula Schools of Medicine and Dentistry
Plymouth University Peninsula Schools of Medicine and Dentistry (PUPSMD) focuses on medical, dental and biomedical education and research. In education it takes the lead in using innovative, evidence-based learning techniques which nurture future doctors, dentists and biomedical scientists who are clinically excellent, have immense empathy for those in their care, and who are well-prepared for roles in an ever-changing health service. Research covers the areas of clinical neurosciences; cancer; inflammation, infection and immunity; diagnostics; genomics; stratification; prevention; personalised integrated care; and novel health technologies. The Research Excellence Framework 2014 ranked the organisation top in the UK for the quality of its research outputs. It is one of the lead academic partners in the Alzheimer's Research UK South West Research Network, and one of four Research Centres of Excellence for charity Brain Tumour Research. PU PSMD holds the Athena SWAN Bronze Award. The awards recognise institutional and departmental commitment to advancing women's careers in science, technology, engineering, mathematics and medicine/dentistry in Higher Education and Research. The Plymouth University 'Shape the Future' Campaign is a strategic fundraising initiative to transform lives and make a real and lasting difference to our global society. It supports a number of projects including the Derriford Research Facility and Brain Tumour Research at Plymouth University. If you would like to support the Campaign you can find out more by visiting http://www.plymouth.ac.uk/campaign
About Action Medical Research
Action Medical Research is a leading UK-wide charity saving and changing children's lives through medical research. For more than 60 years we've helped pioneer ways to prevent disease and develop treatments benefiting millions of people. Our research has helped to beat polio in the UK, develop ultrasound, fight meningitis and prevent stillbirths. But we urgently need to develop more new treatments and cures for sick babies and children and we can't do it without you.
Join our fight for little lives today.