Genetics and Hearing Loss: Clinical and Molecular Characteristics

Friday, 1:00pm to 4:00pm
Seabright
Session 46
This session will provide an overview of the clinical characteristics and molecular mechanisms of hereditary hearing loss in infants, children and adults. Case studies will illustrate modes of inheritance (both monogenic and complex inheritance patterns) and common non-syndromic and syndromic forms of genetic hearing loss. Participants will learn basics of pedigree construction and the importance of pedigree analysis as a tool to understand and evaluate genetic risk factors. Recent advances in molecular genetics which have an increasing impact on the diagnostic evaluation of deaf and hard-of-hearing children and adults will be presented. This includes information on testing strategies ranging from DNA sequencing to identify mutations in single genes to whole exome and whole genome sequencing approaches. Information about recent research investigating genetic factors which contribute to age-related and noise-induced hearing loss will also be discussed. A major goal of the presentation will be to provide strategies for speech and hearing professionals to make appropriate referrals for genetic evaluation, testing and counseling and provide meaningful follow-up with families with hereditary hearing loss.
Track: 
Audiology