Recipient organisationNIHR Great Ormond Street Biomedical Research Centre
NIHR supportRecorded as supported by this research centre
PeriodJan 2025 — Jan 2033
In plain English
AI plain-English summary
Hearing loss affects 1.5 billion people globally, costs nearly $1 trillion per year, and is the largest modifiable risk factor for dementia—yet the genetic causes behind most cases remain poorly understood. Researchers have identified 150 genes linked to congenital hearing loss and 44 linked to age-related hearing loss, but they do not know how these genes cause damage or what specific patterns of hearing loss each produces. Without this knowledge, genetic diagnoses cannot guide treatment. The HEDGE project will build a standardised clinical pathway at University College London Hospitals and Great Ormond Street Hospital to test children and adults for genetic causes of hearing loss, then link those results to detailed measurements of each patient’s hearing. If successful, this integrated approach will allow clinicians to predict how a patient’s hearing loss will progress, inform decisions about hearing aids or cochlear implants, and eventually open the door to gene-specific therapies. The project also aims to create a sustainable national infrastructure that captures both genetic data and clinical outcomes, so that as new hearing-loss genes are discovered, the knowledge can be rapidly translated into better patient care.
View original technical description
Hearing loss currently affects 1.5 billion people globally and is rapidly rising, costing almost $1 trillion/year. It has a profound impact on social, mental, and physical health and is currently the largest identified modifiable risk factor for dementia. Whilst there are many causes of hearing-loss, genetic susceptibility seems to pay a key role in the many presentations of hearing loss. In the two most common presentations of hearing loss, congenital and age related, association studies have identified 150 and 44 genes related to these presentations, respectively. Whilst many hearing-loss related genes have been identified, both the mechanisms through which they predispose to hearing loss and the phenotypic patterns of hearing- loss they result in remain poorly described. Diagnosing underlying genetic causes for hearing loss will help inform treatment and management decisions, particularly for genes that have been well mapped to phenotypic presentation. To ensure that genetic diagnoses improve patient care it is essential that the national infrastructure that captures genotypic data is mirrored with a complementary structure that continues to capture phenotypic data, especially as new genes are discovered. This will allow for a sustainable model that allows better disease characterisation that can rapidly be translated back to inform treatment decisions. HEDGE aims to bring together the scientific and clinical expertise in an integrated academic-clinical service to provide care for UCLH and GOSH patients. We will offer and implement a standardised pathway from research to the clinic to investigate hearing loss in children and adults using gene and mechanism testing. We hope with this integrated otogenetic approach, we will be able to identify their likely genetic susceptibility, better understand their mechanism of hearing loss, provide prognostic information to inform decision making and in the future offer precise therapeutic solutions.
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