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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...

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,...

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 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...

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...

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...

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,...

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...

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...

Genetic testing in congenital hearing loss

Advances in genetic testing over the last decade have reduced the cost and time such testing required and increased understanding of the genes involved in conditions like congenital hearing loss. This study from Atlanta looks at genetic testing from a...

Further understanding of GJB2 hearing loss

For many years, hearing loss has been an area which has attracted the interest of clinical and academic geneticists. Genetic testing for severe-profound hearing loss is now commonplace in many healthcare systems. Understanding the genetics of hearing loss has improved...