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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...

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...

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...

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...

Assessment of genetic disorders: congenital sensorineural hearing loss

Severe or profound sensorineural hearing impairment (SNHI) is a common birth defect, affecting approximately 1 in 1000 newborns [1]. SNHI may result from environmental causes or have a genetic basis. The genetic causes can be further subdivided into non-syndromic (isolated...

Canine hearing testing and the role of otoacoustic emission tests

Otoacoustic emissions testing is an accepted method of hearing testing in humans, but have you ever considered the situation in dogs? This article discusses deafness and hearing testing in dogs and the current role of OAE testing in this species....

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,...

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,...

Cancer genetics and signalling pathways in ENT – a review and discussion of how this can be applied to rare tumours

Introduction Cancer cases continue to increase worldwide, and­­ head and neck cancer is a major global health issue, with an estimated global burden of over 630,000 new cases and over 350,000 deaths per year [1]. The term ‘head and neck...