OTOgenis optimizes the diagnosis of hereditary hearing loss
Genetic diagnosis of hearing loss has represented a challenge for conventional DNA sequencing technologies
Sensorineural hearing loss (hypoacusis) is the most common sensory impairment, affecting one in every thousand new born. In children, when it is not possible to identify an evident cause by using their clinical history and physical examination, genetic studies are the diagnostic test with the highest performance.
Comprehensive next-generation sequencing (NGS) has become the standard for the etiological diagnosis of early-onset hearing loss. However, accurate selection of target genomic regions, analytical performance and variant interpretation remain relevant difficulties for its clinical implementation.
DREAMgenics and IMOMA, together with other collaborators, have recently published an article in the BMC Medical Genomics journal that describes a new molecular tool, OTOgenics, designed to optimize the genetic diagnosis of hereditary hearing loss. We demonstrates that New Generation Sequencing (NGS) can be transferred to clinical practice, improving diagnosis, providing prognostic information, identifying hidden syndromes, saving costs and improving the quality of life of patients. and their families.