Precision and personalised genomic and epigenomic medicine in audiology/hearing loss

A detailed look at the pathogenesis of acquired hearing loss due to exposure to ototoxicity during pregnancy or shortly after birth. Insights from genomic medicine have shown that, along with environmental factors causing epigenetic alterations, hearing loss may be caused...

SEQaBOO: SEQuencing a Baby for an Optimal Outcome

There are at least 15 countries now running genome sequencing projects. The team in Manchester, UK, and Boston, USA, share their SEQaBOO project. Abstract SEQaBOO (SEQuencing a Baby for an Optimal Outcome) will transform newborn hearing screening (NBHS) by bringing...

Genetics and the newborn hearing screen: the future is now

Eliot Shearer shares the progress being made with newborn hearing screening 60 years on from where it started, and future directions for identifying hearing loss using physiologic, genetic and cCMV screening. Newborn screening had its birth in the early 1960s,...

Innovative approaches to treating deafness

Shahar Taiber and Karen Avraham give us a summary of gene therapies for hearing loss, with an overview of limitations and what the future holds. Hearing loss is the most common sensory disorder. The last two decades have seen a...

100,000 Genomes Project: in conversation with Tess Lopez

For Jul/Aug 2021, ENT & Audiology News features several contributions from the 100,000 Genomes Project, and Tess Lopez very kindly agreed to talk to me about her involvement with the project, as well as sharing her personal experiences of having...