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Gene therapy restores baby’s hearing

The guest editor of a forthcoming supplement for ENT & Audiology News has helped enable a baby girl born deaf to hear unaided for the first time.

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...

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...

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...

The structure and function of DNA

DNA structure and replication Genetic information within multicellular organisms, including man, is stored in molecules of deoxyribonucleic acid (DNA), which reside within the chromosomes of each cell nucleus. A DNA molecule consists of two very long chains, or strands, of...

What you need to know about recent advances in genetics of hearing loss in the newborn

Identifying the underlying genetic cause of hearing loss in newborns can improve dramatically the early diagnosis and appropriate intervention. Hearing loss is the most common sensory disorder at birth, affecting approximately two out of 1000 newborns [1]. Congenital impaired hearing...

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...

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...

One airway, one disease - not for everyone!

While 85% of asthmatic patients have rhinitis, only 20-30% with rhinitis have asthma. Together with atopic dermatitis (AD), rhinitis and asthma form a triad that tend to co-exist in patients (multimorbidity). This co-existence raises the possibility of genetic mechanism. Authors...

In conversation with Chrysa Spyridakou, Robert Nash, Emma Clement, Nish Mehta and Anne GM Schilder

Jaclyn Tan interviews members of the London-based multidisciplinary hearing team, about their insights to auditory neuropathy spectrum disorder, and their vision for the future management of this challenging range of conditions. Auditory neuropathy spectrum disorder (ANSD) describes a wide range...

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...

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...