In this project, Professor Patricia Perez-Carpena (University of Granada, Spain) aims to develop a new method to improve diagnosis of hearing loss in children.
Project start date: April 2026
Project end date: March 2027
About the project
‘Sensorineural hearing loss’ is caused by damage to the sound-sensing hair cells in the inner ear, or to the hearing nerve, which carries information about sound to the brain. Over sixty percent of cases of sensorineural hearing loss in children have a genetic cause.
Standard techniques used to diagnose genetic hearing loss often fail to identify a definitive cause, leading to a significant proportion of these children not receiving a diagnosis, known as ‘hidden heritability’.
Currently, researchers try to find the genetic cause by looking for tiny changes in the DNA sequence. This can fail when the genetic cause is more complex, involving changes that affect large stretches of DNA. Such changes are called structural variants, and they are poorly detected by the current protocols.
These protocols assess DNA sequence data generated by a technique called Whole Exome Sequencing, which only reads parts of DNA which provide the instructions to make proteins (these are known as exomes). Professor Carpena aims to develop a new method of analysing Whole Exome Sequencing data, to improve the identification of structural variants that cause genetic hearing loss.
How it works
The researchers will conduct a pilot study, recruiting 15 families who currently have no genetic diagnosis for their inherited sensorineural hearing loss. The researchers will use whole exome sequencing data from these families to develop a detection strategy for structural variants, using state-of-the-art computational tools, and then test how accurate and reliable it is in the laboratory.
What will this research achieve?
If successful, this project will generate data to allow the researchers to secure additional funding to further develop their method towards clinical use in the genetic diagnosis of hearing loss.
This will improve how genetic hearing loss is diagnosed in children and may also help with clinical management and help to identify children who could benefit from emerging treatments, such as gene therapies.
About the researcher
Patricia Perez-Carpena is Assistant Professor in Otolaryngology at the University of Granada, Spain and was awarded the RNID Innovation Seed Fund in 2026.
I hope my research can help provide answers to families of children with hearing loss who do not know the cause of their condition. Beyond diagnosis, I would like to contribute to better understanding of the underlying biological mechanisms, which could lead to more precise, personalised treatments. In the long term, my goal is to reduce uncertainty for patients and families, and support earlier diagnosis and better clinical decision-making.”
