Lien vers HAL – pasteur-03922019
Lien DOI – 10.32907/RO-131-3039996892
Research Outreach, 2022, 131, ⟨10.32907/RO-131-3039996892⟩
Usher syndrome is a rare disease that affects the sensory systems of vision, hearing, and balance. Recent advances in scientific technologies reveal the genes involved in Usher syndrome, their varying phenotypic outcomes, and avenues for therapeutic development. Dr Aziz El-Amraoui of the Pasteur Institute in Paris, France, and Dr Gwenaelle Géléoc of Boston Children’s Hospital and Harvard Medical School in the US, review these advances in our understanding of disease pathogenesis and therapeutic developments. They take stock of the current situation, discuss the need for revised diagnostic guidelines, and frame the future of research in this field.