A paper, published in the influential journal Neurology, highlights the importance of personalised medicine in developing more effective, targeted treatments for the nervous system disorder neurofibromatosis (NF).
The publication is of significant interest to the brain tumour community because as many as 9% of patients diagnosed with a particular form, NF1, go on to develop brain stem glioma.
These include patients such as Jasmine Bayly (pictured) who was diagnosed with NF1 at the age of eight and then learned at the age of 13 that she had an inoperable brain tumour. Now 22 and a student, Jasmine said: “I had to go through two years of chemotherapy which was tough, not just for me but for my family as well.
“Fortunately, I am doing well at the moment although I have been left with Postural Tachycardia Syndrome (PoTs) which causes me severe fatigue. Anything which can be done to get a better understanding of neurofibromatosis and brain tumours is a good thing and I am really pleased to think that specialist research is taking place in this field.”
The paper from Professor Oliver Hanemann and his team pulls together previously published information on genetic factors that contribute to neurofibromatosis.
It describes how our increasing understanding of the genetic changes that contribute to NF1 and NF2 can be valuable for identifying specific subtypes of disease. This seems to be more straightforward for NF2, where analysis of known genetic changes has helped to devise the severity score (mild / moderately severe / severe).
Things seem to be much more complex and challenging for NF1, where a very wide range of genetic changes have been identified, with no clear links with different types of NF1.
Having a better understanding of the different subtypes of neurofibromatosis and their contributing genetic factors will help in the design of any future clinical trials, such that potential treatments could be tested on a group of patients with a similar type of disease. This, in turn, would help in the development of more targeted treatments.
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