GHELP

The Clínica Universidad de Navarra leads GHELP an international collaborative research project whose challenge is to innovate in the field of early detection and treatment of hearing loss. To this end, it proposes the implementation in hearing screening programmes of genetic diagnostic tools that make it possible to identify the origin of hearing loss, thereby facilitating earlier detection of the disease and the establishment of personalised treatments. The project has developed the GHELP genetic diagnostic panel which contains the 179 most relevant genes in the field of hearing loss. The panel has been validated in more than 500 patients in Spain, Portugal and France. According to the World Health Organisation, approximately 466 million people worldwide have limiting deafness (>30 dB), of which 34 million are children. In addition, 5 out of every 1000 newborns have some form of hearing loss, making it a highly prevalent disease. Approximately 60-80% of deafness is genetic and is mainly caused by the alteration of a single or very few genes, so genetic tests are very useful, both for diagnosis and for predicting its nature, evolution and establishing personalised treatments. Current programmes for the early detection of childhood hearing loss are based on the use of audiometric examinations and do not offer a diagnosis of the cause of the hearing deficit. Knowing the cause is key to combating the disease and improving the quality of life of patients and their families.