Acronym: PAS
Study coordinator: Dr Sandrine MARLIN
Early-onset deafness affects approximately 1 in 700 children and 6% of young adults. Around 80% of hearing loss cases are due to a genetic abnormality, and in 10% of cases, hearing loss is associated with other symptoms or conditions. Currently, for 30% of young individuals with hearing loss, no cause is identified through the available genetic testing.
Our project aims to re-analyze genome sequencing data collected in the context of investigating the causes of early-onset hearing loss. The goal is to discover additional genetic causes and to better understand why hearing loss may be more severe in some children.
This project is based on the combined clinical and biological expertise of the French National Reference Center for Rare Diseases “Genetic Deafness,” established in 2004, and its partner research laboratory at the Imagine Institute.