Introduction

Nerve Tumours UK works with many medical professionals, partner patient organisations, universities and accredited individuals to understand and gain insights into various aspects of how Neurofibromatosis and its associated medical complications impacts on the daily life of those diagnosed with Neurofibromatosis Type 1, Type 2 and Schwannomatosis. 

The results from these research projects, much of which is based on findings from within the community, are shared with medical professionals as well as our own Specialist Neurofibromatosis Nurse Network, to further help and support those living with the condition. They also allow us the opportunity to improve the information for carers, educational bodies and employers as well as all associated medical professionals.

Results of completed research projects and studies will be shared via the website, when available for publication.

Detailed below, is a list of the latest research projects, that many members of our community are taking part in.

Nerve Tumours UK is not responsible for any data collection or the content of any of these projects. All requests to collaborate with research projects must receive prior approval of the Nerve Tumours UK Medical Advisory Board. 

• Medical photography of dermatological conditions

• Disfigurement equality at work research

• NF1 stem cell research

• NF1 Research Study with fly model

• Childhood Neurological Conditions Survey Part 2

• Online Harvard Study - Resilient Youth with NF

• Eden Study

• Centre for Appearance Research - Parents Support Materials Study

• TABI (Teen Appearance and Body Image) - CAR Research Study

• Centre for Appearance Research (CAR) - Somali Heritage & NF Study

• NF2 & Identity Research Study

• NF1 PN Impact on Patients’ and Caregivers’ Lives

• Coordinated Care of Rare Diseases Study at UCL

• Centre for Appearance Research NF Survey

• Research call: Does neurofibromatosis affect how you feel about your body?

• NF1 with Plexiform Neurofibromas Study: information for patients and carers

• Living with Neurofibromatosis Type 1: An Anthropological Study

• Childhood Neurological Conditions Survey

• Embracing Complexity: Share your Covid-19 Story

• Act it Out Prototype App Trial

• Covid-19 Impact on Wellbeing in Families of Children with Rare Neurogenetic Disorders(CoIN Study)

• NF1, Plexiform Neurofibromas Market Research Study

• NF1 Non Invasive Brain Stimulation

• Visible Difference Equality Law Research: summary of findings

Nicholas is a 4th Year Medical Student at Cardiff University, and with his supervisor Dr Jui Vyas, he is currently working on a project titled “Medical Photographs: Patient perceptions of medical photography of dermatological conditions”. 

This pilot study is an attempt to understand some of the patient factors behind the reasons for inadequate representation of patients of skin of colour in dermatology images. In addition we would also like to determine if there are any other factors that influence a patient’s consent to medical photographs of their dermatological conditions. Therefore, the aim of the study is to determine if patient demographics influence perception of medical photography of dermatological conditions.

These questions will be asked to find out if these different factors influence patients’ perceptions on consenting for medical photographs being taken of their dermatological conditions, or if it influences whether health care professionals will request consent from patients.

Please note that the deadline to complete the survey is Sunday 19th June 2022.

Queen Mary University, London are looking for HR/ EDI participants for their research on improving workplace equality for people with disfigurements in the UK.

We want to find out how employers approach issues related to disfigurement in the workplace and to identify factors which may either help or hinder workplace equality for people with disfigurements.

The findings will be used to construct guidance for employers on how to create appearance-inclusive workplaces, and to ensure that staff with disfigurements are not disadvantaged. We are looking for participants to contribute to this aspect of the study. The research outcomes will, we hope, be useful to employers in the future.

Children with NF1 are more likely than others to have difficulties related to autism spectrum disorder but we don’t know why.

My research, as a PhD student at the University of Manchester, is hoping to uncover some hidden clues as to what may be happening during human brain development in NF1.

Persons with NF1 are much more likely than others to be diagnosed with autism, which can often significantly impact an individual’s quality of life. However, we don’t understand why spelling mistakes in NF1 cause autism. Understanding this is really important to help us develop new treatments.

My research as a PhD student at the University of Manchester, under the supervision of Professor Richard Baines, Dr. Shruti Garg, and Professor Gareth Evans, aims to investigate how the NF1 gene is involved in controlling brain function. To do so, I use quite an unusual animal: the fruit fly.

The British Paediatric Neurology Association and James Lind Alliance have launched a survey to define the Top 10 unanswered questions about the treatment of childhood neurological conditions, where there is uncertainty about the effectiveness of treatments. 

We have refined those questions and are now launching our second survey. From a list of 44 questions, please choose the top 10 most important to you. 

We would like to invite you to help us ensure that the survey and workshops we carry out following the outcomes involve those whose lives are affected by these conditions and the clinicians who treat them. Your previous support was invaluable.  

This research is open for participation.

Online Harvard Study - Resilient Youth with NF

Our team at Massachusetts General Hospital is recruiting adolescents (ages 12-17) for a stress and symptom management program. This entirely virtual program consists of eight 45-minute group sessions over Zoom and online surveys.

If you are interested or would like more information, please contact mkanaya@mgh.harvard.edu for more details. Millan Kanaya, Study Co-ordinator

This research is open for participation.

Early Development in Neurofibromatosis type 1 (NF1)

The EDEN study aims to investigate early social, communication and attention development in babies who have NF1 or are born in a family where a parent has NF1.

About the study

EDEN is designed to identify early markers of learning and behavioural difficulties such as autism and ADHD by understanding social and cognitive development of babies with NF1.  All babies born in a family with a history of NF1 are welcome to participate. We will compare the development of babies who have NF1 to those babies who do not inherit NF1.

By understanding early development, our aim is to speed up the discovery of treatments that can be used to boost learning and social development in NF1.

The study is a collaboration with Birkbeck, University of London and BASIS, The University of Manchester and Central Manchester University Hospitals NHS Foundation Trust.  

The EDEN study is funded by Action Medical Research for Children, Great Ormond Street Hospital Charity and Medical Research Council.

This research is open for participation.

Maia Thornton, a PhD student from the Centre for Appearance Research, is looking for parents and carers of children aged 0-18 years to provide feedback on some parent materials.

These parent support materials have been designed with parents of children with appearance affecting conditions and injuries, and professionals who have experience supporting these families.

Parents and carers will be asked to review support materials and answer a short survey to tell us about their experience, and anything they feel could be improved.

Anyone who completes the survey will be offered the chance to enter into a raffle to win a £50 Amazon voucher.

Email Maia at maia.thornton@uwe.ac.uk for more information.

This research is open for participation. 

Young people often have concerns about the way they look. This can sometimes affect a range of things, such as their self-perceptions, their relationships with others, and how they do at school. The Centre for Appearance Research has launched a new study called TABI (Teen Appearance and Body Image) to explore young people’s experience of appearance and body image using an online survey.

This research is open for participation. 

Researchers at the Centre for Appearance Research (CAR) at the University of the West of England in Bristol, want to hear from people of Somali heritage who have nerve tumours affecting the face. This research will be crucial for informing the development of future support for Somali people with appearance-altering conditions, like nerve tumours. 

This research is open for participation. 

Do you have NF2? Suzi wants to hear from you. Suzi is a Postgraduate student at Bangor University and is looking to talk to people diagnosed with NF2 to understand their experience of identity. Share your experiences and help medical professionals better understand the individual impacts that NF2 can have on people's lives. 

To take part you need to have a diagnosis of NF2 that was made longer than 12 months ago, be over the age of 18, and live in the UK. 

This research is now closed. 

Do you have NF1 with plexiform neurofibromas (NF1 PN)? Are you a parent of someone with NF1 PN? Do you care for someone with NF1 PN? If yes to any of the questions, please share your views by completing an anonymous survey, which will help healthcare decision-makers better understand the challenges people with NF1 PN and their caregivers face.

This research is now closed.

Coordinated Care of Rare Diseases (CONCORD) at University College London, is a research study into the care of people with Rare Diseases in the UK. It focuses on how patients, families and healthcare professionals who treat rare diseases would like care to be coordinated.

This research is now closed.

The Centre for Appearance Research at UWE Bristol interviewed parents and carers of children with NF that took part in an online survey about their parenting and caring experiences. Findings from the survey are a vital part to inform the development of future support for parents and carers of children with appearance affecting conditions and injuries.

This research is open for participation. 

Kate Adkins is a researcher and Trainee Clinical Psychologist based at the University of Sheffield. As part of her doctoral research, she is interested in improving self-help interventions for people living with neurofibromatosis and dermatological conditions.

If neurofibromatosis affects how you feel about your body, please consider helping psychologists test a 1-week online writing intervention. By taking part you will be helping us learn whether the intervention could help improve body image for other individuals living with a range of dermatological conditions and be in with a chance to win a £50 voucher of your choice.

This research is open for participation. 

If you have Neurofibromatosis type 1 (NF1) with plexiform neurofibromas (PN) or care for a child with NF1 and PN then we want to hear from you. Share your experience living with NF1 and PN and the impact it has in your daily lives. Help shape the future treatment for NF Type 1 & receive £30.00 in recognition of sharing your personal experience.

This research is open for participation. 

Naomi Marshall is a PhD student at the University of Oxford, and she’s looking to talk to people in the UK who can help answer these questions.

Naomi’s an anthropologist, which means she studies cultures by hearing about them first-hand, in people’s own words. Growing up in both America and Britain, Naomi learned how important culture is for shaping people’s everyday lives, especially when it comes to health. Her field, medical anthropology, explores how people’s backgrounds influence how they experience health conditions. Getting to know people in-depth, whether in a single interview, or even over the course of several months, is what makes anthropology different to other kinds of research. The more you can talk about your everyday life (including your values, opinions, experiences, and aspirations), the better Naomi’s research will be.

This research is important because gathering and sharing NF1 stories from diverse perspective can help patients and doctors alike. Having accessible accounts from around the world of how people live and thrive with NF1 can inform and inspire people living with the condition. Data from this research can also help train healthcare providers to become more culturally sensitive. Moreover, having detailed accounts of the variety of NF1 experiences can inform policymakers, such as legislators and bioethicists. So while taking part in this research is unpaid, it is still an exciting and rewarding opportunity to share your story. You can be from any background to take part! You just have to be over 16, live in the UK, and be willing to chat about your experiences with NF1.

This research is open for participation. 

You can help shape the future of Neurofibromatosis treatment by sharing your NF story. The British Paediatric Neurology Association and James Lind Alliance have launched their survey to better understand children & young adults (0-25) with neurological conditions, including Neurofibromatosis Type 1, Type 2 & Schwannomatosis. They want to define the top 10 unanswered questions about the treatment of childhood neurological conditions, where there is uncertainty about the effectiveness of treatments.

Share your voice and make sure those whose lives are affected by NF are represented – help improve the lives of children with Neurofibromatosis and other neurological conditions.

This research is now closed.

Covid19 has impacted all of our lives as we could never have imagined. Many of our NF community have been hit harder than most by the crisis, struggling to adapt to the varying changing restrictions.

As members of Embracing Complexity Coalition, we asked our community to share their experiences of Covid19, whether positive or negative, to help improve the quality of life for people affected with Neurofibromatosis during and after the pandemic. Learning from lockdown to support those who think differently. 

This research is now closed.

Act It Out App has been designed by researchers from the Centre for Appearance Research at UWE Bristol. They want to help its users do more of the things they care about in life and reduce the impact of visible difference on their daily life. This prototype app uses an established psychological approach called Acceptance and Commitment Therapy (ACT). In 6 self-guided sessions, the app hopes to noticeable improve the concerns of individuals who have a visible difference, including those with Neurofibromatosis, to help them in daily life.

This research is open for participation.

Kings College London & a UK-wide team of researchers (CoIN Study) want to hear from you. Their latest survey wants to better understand the impact of Covid19 on the wellbeing of families of children (0-16) with rare diseases and neurodevelopmental disorders, including Neurofibromatosis. Share your views to help provide better support for families and children both now and in the future.

This research is now closed.

Have your voice heard and help further our sponsor’s research. Adept field solutions, a pharmaceutical company, are carrying out research to better understand how they can support people with Neurofibromatosis Type 1 (NF1) and Plexiform Neurofibromas (PN) as well as their care-givers.

Your story will help many others, like yourself, with Neurofibromatosis in the future.

This research is now closed.

Many young people with Neurofibromatosis Type 1 (NF1) have daily problems with learning, paying attention in the classroom and general concentration. If you’re a young person (11-17) who suffers from learning difficulties and concentration problems, Manchester University wants to hear from you. Their new study involves a new treatment called ‘transcranial direct current stimulation (tCDS), which uses Non-Invasive Brain Stimulation (NNIBS) which can help children learn better.

This research is now closed.

Hannah Saunders Durham at the Centre for Ethics and Law in the Life Sciences (CELLS) shares the results of her latest study. She undertook the study to better understand the experiences of visible difference in relation to equality and the law. Using seventeen interviews from volunteers she presents her results in five key themes.