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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...

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...

Rapid genetic testing to avoid hearing loss in neonates

Thousands of newborn babies could avoid a lifetime of hearing loss thanks to a new rapid genetic test. In this article, we learn how. We have demonstrated for the first time that a rapid genetic test from a cheek swab...

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...

Hidden genetic disorders in children that may present to the otolaryngologist

Background Among the many hundreds of children presenting to the otolaryngology clinic are a few whose symptoms are due to an underlying genetic condition. In most cases the underlying syndrome is obvious and has already been diagnosed, such as the...

Genetic research on hereditary hearing loss and clinical application in the Chinese population

Congenital deafness in China affects more people than the entire population of Australia. Prof Wang give us a comprehensive insight into one of the main congenital disabilities in China, looking into the causes of deafness and the benefits of genetic...

Molecular and genetic nature of skull base tumours drives management

This article reviews the molecular basis and paradigm shift in the diagnosis and management of skull base tumours. It is now known that the phenotype of meningiomas is influenced by their genotype. Endolymphatic sac tumours are observed in up to...

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...

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,...

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...