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© Research
Publication : Nature Reviews Genetics

Deafness: from genetic architecture to gene therapy

Scientific Fields
Diseases
Organisms
Applications
Technique

Published in Nature Reviews Genetics - 12 May 2023

Christine Petit, Crystel Bonnet, Saaïd Safieddine

Link to HAL – pasteur-04097478

Link to DOI – 10.1038/s41576-023-00597-7

Nature Reviews Genetics, 2023, ⟨10.1038/s41576-023-00597-7⟩

Progress in deciphering the genetic architecture of human sensorineural hearing impairment (SNHI) or loss, and multidisciplinary studies of mouse models, have led to the elucidation of the molecular mechanisms underlying auditory system function, primarily in the cochlea, the mammalian hearing organ. These studies have provided unparalleled insights into the pathophysiological processes involved in SNHI, paving the way for the development of inner-ear gene therapy based on gene replacement, gene augmentation or gene editing. The application of these approaches in preclinical studies over the past decade has highlighted key translational opportunities and challenges for achieving effective, safe and sustained inner-ear gene therapy to prevent or cure monogenic forms of SNHI and associated balance disorders.