In this project, Eleanor Brown explores the underlying biology of Neurofibromatosis type 2 (NF2), a genetically inherited syndrome which causes hearing loss and tinnitus, and ways to control its progression.
Project start date: October 2023
Project end date: September 2026
About the project
Neurofibromatosis type 2 (NF2) affects around 1 in 30,000 people and can cause tumours within the nervous system, causing hearing loss, tinnitus, and balance problems. Despite this, there are currently no approved treatments that target the underlying biology of the syndrome.
Eleanor seeks to better understand how genetic mutations that cause NF2 affect the structure and function of the nervous system. This will help to design and develop treatments that can control the growth of the tumours and prevent the life-changing effects of NF2.
How it works
Using a genetic mouse model of NF2, Eleanor will identify the cells in the nervous system that are most likely to be affected by the disease and how they change over time.
She will then compare the findings to samples of inner ear tissue taken from people with NF2 to determine whether the NF2 mouse model replicates the disease processes seen in people. This will help to establish the mouse model as a platform for testing future drug therapies for NF2.
How will this research benefit people with hearing loss?
The results from this project will lead to a better understanding of how the inner ear changes in people with NF2. By analysing inner ear cells in NF2-affected people and mice at the molecular level, Eleanor will be able to identify targets for new drug-based therapies for NF2. The results may ultimately also lead to the development of gene therapy strategies to treat NF2 in the future.
About the researcher
Eleanor Brown is a PhD student in Professor Dan Jagger’s lab at University College London. We are co-funding her studentship in partnership with the Anatomical Society.
Real-life experiences shared by those with hearing loss show just how important research into the field is and provides a great perspective on why attention is needed to provide potential treatments.”
