Rare Disease Day is a pivotal time to raise awareness and support for those living with rare conditions such as Neurofibromatosis type 2-related Schwannomatosis (NF2-SWN). Read about the research that NF2BioSolutions funded PhD student Reygn Done is working on…

Nf2-SWN is a rare genetic disorder caused by a mutation in the Nf2 gene. This mutation leads to the development of tumours on nerves, primarily causing bilateral vestibular schwannomas. While these tumours are non-cancerous, they can significantly impact the lives of those affected, leading to challenges like balancing issues, hearing loss, facial paralysis, and in severe cases, pressure on the brain stem.

Here in Manchester, we are committed to advancing research on NF2-SWN. My specific PhD project looks at identifying new treatment targets, focusing on T-cell – a type of immune cell that helps protect the body by detecting and eliminating cancer cells. Although T-cell therapies have been successful in treating various cancers, they haven’t yet been applied to NF2-associated tumours.

So far, my research has pinpointed unique groups of T-cells within these tumours, each group with specific roles that could be leveraged within the lab to strengthen our fight against these tumours. We are also in the process of developing a specialized animal model, which recapitulates NF2-associated tumours, to test these new treatments.

There is much work to be done, but we are optimistic about making significant progress for those with NF2-SWN. Join us in raising awareness today – every rare disease deserves our attention, recognition, and support. A special thanks goes out to NF2BioSolutions for funding this important work, without them, these advances would not be possible!

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