Developing genetic and genomic solutions
How can genomics help us learn more about hearing health?
Precision medicine helps us to find out more about the genomic landscape of hearing and listening difficulties. Utilising our infrastructure, informatics and biomarker platforms expertise, we will revolutionise our knowledge of hearing health to aid diagnosis and management, and to test strategies to improve outcomes across all ages.
- Identified a region of interest with a highly significant correlation with people who have developed a sporadic vestibular schwannoma, compared to controls. We are now planning to investigate this region further to understand how it is involved in vestibular schwannoma risk and to expand the study to include people with vestibular schwannomas and an NF2 disease-associated pathogenic variant.
- Successfully completed the PALOH implementation study of a point of care test on over 750 babies in Manchester and Liverpool. This is the first time worldwide that a point of care genetic testing has been used in neonates to prevent hearing loss. This genetic change is found in 1 in 500 individuals worldwide so the technology has the potential to prevent hearing loss in 14,00 babies every year across the world. If implemented will save the NHS £5-7 million per year by avoiding need for cochlear implantation and care for hearing loss.