HEDGE
Research type
Research Study
Full title
Hearing, Ear, Deafness and GEnetics
IRAS ID
309507
Contact name
Nishchay Mehta
Contact email
Sponsor organisation
University College London
Duration of Study in the UK
9 years, 11 months, 31 days
Research summary
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.
REC name
London - Chelsea Research Ethics Committee
REC reference
23/LO/0585
Date of REC Opinion
21 Aug 2023
REC opinion
Further Information Favourable Opinion