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Audiology in this issue...Genomics

Priya Carling, AuD, Director and Consultant Audiologist, Kent Hearing Ltd, UK. E: priya@Kenthearing.com As a working clinical audiologist, my focus every day is predominantly diagnostics of hearing loss, closely followed by management of ear pathology and rehabilitation of hearing loss...

Harnessing head and neck cancer genomics for personalised medicine

Luc Morris updates us on the future of cancer diagnosis and treatment, which lies in “personalised oncology”, where specific molecular alterations of each tumour will be identified, and matched with actionable alterations in existing therapies, ushering in the era of...

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...

Hearing about genes

I have been fortunate in my career to travel as an invited lecturer at many hospitals, universities and professional societies around the world. I have spoken to audiology societies, otolaryngology societies, and university communication disorders programmes in Europe, Asia, Africa,...

Genetics WG4. Improving diagnosis and drug development through the genetic understanding of tinnitus subtypes: a TINNET endeavour

Christopher R Cederroth and Jose Antonio Lopez-Escamez explain how progress is being made to investigate the contribution of genetic factors to tinnitus, including a subtype of ‘extreme’ tinnitus in Ménière’s disease. Genetics WG4 is working towards determining the genetic basis...

What’s new in genetic testing for hearing impairment?

Often the first question following the diagnosis of a hearing loss is ‘why?’ In this article Ali Danesh explores the advances made in uncovering ‘why’ from a genetics perspective. Ali describes the panel of genetic tests now commercially available to...

Genomic testing for deafness and its implications

Gene therapies for hearing loss are rapidly advancing and will be transitioning to clinical practice. Here, the authors explain why clinicians involved in managing these disorders need to be aware of these advances. Genomic testing in England was significantly reconfigured...

From the editor JulAug 2021

Declan Costello, MA, MBBS, FRCS(ORL-HNS), Editor, ENT & Audiology News; Consultant Ear, Nose and Throat Surgeon, Wexham Park Hospital, Slough, Berkshire, UK. E: d.costello@nhs.net It’s rare that one of our five senses hits the headlines and touches the public consciousness,...

Scientific advances in mapping syndromic hearing loss

From more than 22000 genes that we humans have, approximately 3000 genes are associated with human communication. There are tens of syndromes which have been identified to be accompanied by hearing loss. Disorders of almost every organ of the body...

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...

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...

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...