In this project, Dr Juan Fons at King’s College London researches the link between middle-ear infections and Down Syndrome, to help develop effective treatments.
Project start date: October 2022
Project end date: September 2024
About the project
Otitis media (often called glue ear) is an infection of the middle ear which, in some cases, can become persistent, causing chronic inflammation. In these cases, fluid builds up in the middle ear and prevents sound information from being transmitted into the inner ear, causing a conductive hearing loss. Affected people often experience significant pain, and in some cases their hearing loss may become permanent.
Current treatments for chronic otitis media are antibiotics and surgery to insert a tube, or grommet, through the eardrum to allow the fluid to drain from the middle ear. However, the effect is often temporary, with people often having to undergo repeated surgeries.
People with Down syndrome are especially susceptible to developing chronic otitis media. In this project, Juan will investigate why. He will focus on a gene called Dyrk1a in his project – evidence suggests that this gene is involved in the development of the middle ear. As people with Down syndrome have three copies of this gene, instead of the more usual two, it may make them more susceptible to middle ear infections.
How it works
Juan will study mouse models of Down syndrome to understand more about the Dyrk1a gene. He will see how the middle ear develops differently in these mice compared to ‘normal’ mice and how the increased gene activity caused by having three, rather than two, copies of the gene leads to chronic otitis media.
Juan will also test several existing drugs for their ability to prevent or treat otitis media in the mouse model, measuring how effective these drugs are in correcting the activity of the Dyrk1a gene and thus preventing or treating chronic otitis media.
How will this research benefit people with hearing loss?
By 1 year of age, over 90% of people with Down syndrome will have had at least one middle ear infection, and 10-20% of adults have hearing loss caused by these infections, affecting their communication and social integration.
This project will improve our understanding of why people with Down syndrome are at higher risk of chronic middle ear infections and the hearing loss that they cause. It may also provide the first step towards an effective treatment, avoiding repeated surgeries.
About the researcher
Dr Juan Fons is a Research Associate at King’s College London. He was awarded the RNID Fellowship for this project in 2022.
Due to my research experience, I am in a position that allows me to work towards improving the quality of life of people with hearing loss, which really motivates me.
The idea of being able to aid Down syndrome children and help them with their hearing and social integration is quite gratifying and one of the best driving forces to wake up each day.”
