You searched for "genetics"
Genetic discovery using animal models: presbyacusis
By their very nature, late-onset hereditary disorders offer a large window of opportunity for therapeutic intervention. However, before we can begin to think about strategies we need knowledge of the genetics and pathology underlying the condition. In this article we...
Rhinology and Skull Base Surgery – From the Lab to the Operating Room: an Evidence-based Approach
There have been many attempts to comprehensively address the topic of ‘Rhinology’, however Georgalas and Fokkens in their new book Rhinology and Skull Base Surgery – From the lab to the operating room: an evidence-based approach, have managed to deliver...Annual Activity of The British Association of Audiovestibular Physicians 2021
The British Association of Audiovestibular Physicians (BAAP) is the national association of Auiovestibular Physicians in the UK. The Education Committee and the Audit Committee of BAAP organise a range of thought-provoking events annually. As we embraced a new way of...Rapid genetic testing to avoid hearing loss in neonates
Thousands of newborn babies could avoid a lifetime of hearing loss thanks to a new rapid genetic test. In this article, we learn how. We have demonstrated for the first time that a rapid genetic test from a cheek swab...
Cholesteatoma and Ear Surgery
The book Cholesteatoma and Ear Surgery is a selection of papers and presentations, including round tables and symposia, that constitute the proceedings of the 10th International Conference on Cholesteatoma and Ear surgery, a highly successful meeting that attracted over 1000...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...Branchio Oto Renal syndrome
Branchio Oto Renal Syndrome (BOR) is an autosomal dominant disorder with branchial, otologic and renal manifestations. The presence of clinical signs varies among and within affected families. Three causative genes for BOR syndrome have been reported thus far: EYA1, SIX1...In this issue...Inner Ear Therapeutics
Emma Stapleton, MBChB, FRCS (ORL-HNS), Consultant Otolaryngologist, Cochlear Implant and Skull Base Surgeon, Manchester Royal Infirmary, UK. E: emmastapleton@doctors.org.ukTwitter: @otolaryngolofox Ralph Holme, Director of Research and Insight, RNID, UK. Ralph. E: Holme@rnid.org.uk W: www.rnid.org.uk For Mar/Apr 2022, we sang the...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...Hidden genetic disorders in children that may present to the otolaryngologist
Background Among the many hundreds of children presenting to the otolaryngology clinic are a few whose symptoms are due to an underlying genetic condition. In most cases the underlying syndrome is obvious and has already been diagnosed, such as the...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...
