The Tumor Foundation of BC has been funding research since 1994 when we provided our first grant to the NF Clinical Database at the University of British Columbia.
Since that time the Foundation has provided numerous stimulus grants to both new and established researchers delving deeper into the genetics of NF.
British Columbian families’ contributions to NF Research
Patricia Birch, Lab Manager, Friedman Lab, University of BC
About 28 years ago, the gene that causes NF1 was discovered and later that same year, the Friedman Lab was awarded a contract by the US National Neurofibromatosis Foundation (now Children’s Tumor Foundation) to develop an international database to study the signs and symptoms (the “phenotype”) of all types of neurofibromatosis. Within a few years, we had amassed data from many countries and had begun a research program that centred on analysis of these data. We had a number of wonderfully bright and enthusiastic graduate students to help out. But importantly, at the same time, the British Columbia Neurofibromatosis Foundation (BCNF, now the Tumour Foundation of BC) was blossoming, members were asking questions, demanding answers, and becoming interested in learning about and contributing to research.
At the beginning of 2018, we looked back on the contributions of BC families to the world’s understanding of NF and the many ways the BCNF facilitated this.
In the early 1990s, there were just a handful of researchers studying NF and so it was important for us to work together. BCNF brought key researchers to speak at the annual NF conferences. In doing so, it gave our lab the opportunity to collaborate with some of the best NF minds to try to understand the clinical picture of both NF1 and NF2. Many of the top names in NF: Gareth Evans, Pierre Wolkenstein, Vic Riccardi, Dave Viskochil, Victor Mautner, and others all visited Vancouver to speak to BCNF families and to collaborate with Dr. Jan Friedman and his research team.
These collaborations enabled us to develop a more thorough understanding of NF. For example, our findings enabled us to reassure parents that optic gliomas rarely develop after early childhood, and that certain types of scoliosis or pseudarthrosis are unlikely to develop after the end of elementary school. On the other hand, we discovered that a specific type of congenital heart problem is 10 times more common in people with NF1. These seem like small details but each one helps to put together the jigsaw puzzle of information about NF. We were also able to develop growth charts for NF1 so that people the world over may now use appropriate height, weight, and head circumference charts for their children with NF1.
We worked with data from people with NF2 and developed models of tumour formation that helped to understand the progression of this condition. With Gareth Evans and others, we demonstrated that NF2 tends to be similar in related individuals, which ultimately led to the current understanding of effect of the type of NF2 mutation on disease severity and tumour progression. This is particularly important when people are evaluating the effect of experimental drugs on tumour growth.
BC families with NF listened as we explained new findings at each annual NF symposium. There is always the opportunity for questions and on one occasion at a meeting in Burnaby, some parents asked why their children with NF1 had more dental cavities than those without NF1. We had no idea that this was even an issue, but you told us, in no uncertain terms, that it is a significant problem. Together with BCNF, we designed a study to evaluate this, and many of you may remember receiving dental mirrors in the mail along with a request to count caries and fillings. We published this, and then the whole world knew that dental health was something to be extra careful of, particularly in children with NF1.
The sudden onset of cardio-vascular disease in an otherwise healthy British Columbian man with NF1 prompted our lab to explore vascular disease in NF – a concern that was previously under-appreciated. Many of you came to Vancouver for special testing – including blood work, ECG, and an ultrasound of the artery in the neck. It was quite a commitment. But from these studies, we developed an understanding of the risk of vascular disease in adults with NF1.
Similarly, we became aware of lower vitamin D levels in some people with NF1. BC families contributed to two studies to help us better understand possible links between this and low bone mineral density in children and in older adults with NF1. The results of these two studies help to drive an international project, now underway, to try to prevent bone loss by supplementing people’s diets with vitamin D and calcium. Yes… some of you are involved in that now too.
Much of this detailed work in both NF1 and NF2 was assisted by graduate students or summer students who were often partially funded by grants from BCNF. Many of these students have since taken their expertise in NF1 and NF2 to become researchers and clinicians in areas such as family medicine, otolaryngology, obstetrics, cytogenetics and a variety of other areas.
This page mentions just a few of the studies where BC families or the BCNF/Tumour Foundation of BC, has been central to world-leading research. Of over 60 publications on NF1 and NF2 that have involved our lab, you, or your organization facilitated over two-thirds of them.
Thank you, again.
Here are a few ways you can get involved in research and help to change the future.
- Join the NF Registry
- Research the various clinical trials for neurofibromatosis or schwannomatosis.
- Tell your doctor that you are interested in learning more about clinical trials or research studies.
- Watch for opportunities that may be listed on this site or on social media.
- Make a donation to support research
Resiliency for NF Study
Looking for Participants
Are you feeling stressed?
Are your NF symptoms bothersome?
The Family Center for Neurofibromatosis and the Integrated Brain Health Clinical and Research Program (IBHCRP) at the Massachusetts General Hospital are conducting a research study to compare 2 programs that teach stress and symptom management skills for adults with NF1, NF2, or schwannomatosis. The Department of Defense is paying for this study.
What does the study involve?
- 8 group sessions led by an MGH psychologist with expertise in NF.
- Completion of questionnaires on your own computer at the beginning, end, 6 months and 12 months after the sessions.
- All sessions will take place from your home, using Vidyo, a secure software program you can use with a computer and a webcam to have live video-conferences, that we will help you install for free.
- Sessions are 1.5 hours long and held once a week. This study DOES NOT involve taking medication. This study DOES NOT involve travel to MGH.
Who can participate?
- We are looking for people ages 18 and older who have a diagnosis of neurofibromatosis 1 (NF1), neurofibromatosis 2 (NF2), or schwannomatosis.
What are the benefits?
- If you participate in this research study, you will learn stress and symptom management skills that you can continue to use after the study. You will also interact with other adults with NF like yourself.
- There is no cost to participate in this study and your decision to participate will not affect your medical care.
How do I join?
- If you would like to learn more about this research study, please contact the study coordinator, Christopher J. Funes, firstname.lastname@example.org, or the principal investigator, Ana-Maria Vranceanu, email@example.com.
Thank you for considering our research study! You will be helping us gather important information about a training that may help other patients in the future.
Why should I participate in research?
- Participation in research advances our understanding of neurofibromatosis and schwannomatosis to better understand the progression of the disorder
- Research leads to better treatments and hopefully one day soon, a cure.
- Enrolling in a study might give you or your child a chance to see extra doctors or find out more facts about you or your child’s condition.
- A clinical study may offer closer monitoring or additional testing for you or your child, which may not be part of regular care.
The clinical trial links below are for informational purposes only. The Tumour Foundation cannot recommend or advise patients about clinical trials. Please consult your physician for guidance.
Health Canada Database
US Clinical Trials
World Health Organization
Canadian Cancer Trials
NF Center (US) Clinical Trials