Curing Genetic Hearing Loss: A Goal within Reach (AMW)
2020 AAO-HNSF Annual Meeting & OTO Experience
Sensorineural hearing loss (SNHL) is the most common congenital sensory impairment (2/500 births) rising to >50% prevalence over age 75 years. Genetic etiologies cause more than 50% of hearing loss in children, and are a significant contributor to age-related hearing loss. Hearing aids, cochlear implants, and other assistive technology have greatly improved access to audition for many patients, but often only provide incomplete access, and they do not prevent or cure the hearing loss. Therapy for genetic hearing loss, until now only hypothetical, is becoming a reality. Multiple pre-clinical studies for the hearing loss genes TMC1, Ush1g (sans), Ush1C (harmonin), Vglut3, Otof, Gjb2, Gjb6, Kcnq1, Msrb3, Clrn1, Whrn, Lhfp15 have been completed or are underway. The first successful model of genetic hearing loss showing improvement with gene therapy was in 2012, used AAV viral delivery of vglut3 cDNA into mice. Subsequently, very successful mouse models of hearing loss due to TMC1, USH1C, or Clrn1, and non-human primate models of Usher 3, are leading to clinical trials in humans. This panel will address the emerging area of genetic hearing loss therapy. Topics include genes under study, modes of therapy, gene delivery (viruses, nanomaterials, liposomes, polymers), non-specific gene therapy (e.g. stem cells), non-genetic therapies (e.g. small molecules), and non-animal models of hearing loss and therapy (e.g. organoids). Panelists include a pediatric otologist, a geneticist/cytopathologist, and 2 translational genetic hearing loss scientists.
Credits
CME:1.0, MOC:1.0
Description
Sensorineural hearing loss (SNHL) is the most common congenital sensory impairment (2/500 births) rising to >50% prevalence over age 75 years. Genetic etiologies cause more than 50% of hearing loss in children, and are a significant contributor to age-related hearing loss. Hearing aids, cochlear implants, and other assistive technology have greatly improved access to audition for many patients, but often only provide incomplete access, and they do not prevent or cure the hearing loss. Therapy for genetic hearing loss, until now only hypothetical, is becoming a reality. Multiple pre-clinical studies for the hearing loss genes TMC1, Ush1g (sans), Ush1C (harmonin), Vglut3, Otof, Gjb2, Gjb6, Kcnq1, Msrb3, Clrn1, Whrn, Lhfp15 have been completed or are underway. The first successful model of genetic hearing loss showing improvement with gene therapy was in 2012, used AAV viral delivery of vglut3 cDNA into mice. Subsequently, very successful mouse models of hearing loss due to TMC1, USH1C, or Clrn1, and non-human primate models of Usher 3, are leading to clinical trials in humans. This panel will address the emerging area of genetic hearing loss therapy. Topics include genes under study, modes of therapy, gene delivery (viruses, nanomaterials, liposomes, polymers), non-specific gene therapy (e.g. stem cells), non-genetic therapies (e.g. small molecules), and non-animal models of hearing loss and therapy (e.g. organoids). Panelists include a pediatric otologist, a geneticist/cytopathologist, and 2 translational genetic hearing loss scientists.Learning Objectives: 1. Describe the genetic causes of hearing loss, which parts of the inner ear are involved, and which populations are affected. 2. Interpret the current genetic hearing loss basic science studies and relevance to human hearing. 3. Outline how current pre-clinical studies will translate into therapy for human hearing loss.Faculty: Jeffrey Holt, PhD(Nothing to Disclose), Margaret Kenna, MD MPH(Nothing to Disclose), Karl Koehler, PhD(Nothing to Disclose), Cynthia Morton, PhD(Nothing to Disclose).