You searched for "genes"

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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,...

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...

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...

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...

Hearing loss and Alport syndrome

Alport syndrome (AS) includes a group of hereditary diseases caused by mutations in the COL4A3, COL4A4 or COL4A5 genes. These genes are responsible for the biosynthesis of α3, α4 and α5 collagen IV chains, which are located in the glomerular...

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...

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...

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...

Discovery in the genetics of complex disease: Otitis media

Otitis media (OM), a common disease of childhood, is considered to be a complex trait with multiple genetic and environmental factors expected to contribute to a child’s risk of developing recurrent acute OM (rAOM; ≥3 episodes in 6 months or...

The British Laryngological Association and Industry

In 2011 British laryngologists Martin Birchall and Guri Sandhu, assisted by ENT SpR Chad Al Yagachi, organised the first highly successful three-day international ‘Cutting-Edge Laryngology for the 21st Century’ conference at the Royal College of Surgeons in London. The Kenes...

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...