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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...

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...

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...

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...

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...

Cochlear Implants, Third Edition

Cochlear Implants is now in its third edition with the last addition being published in 2006. With the third edition being published in 2014 there have been eight years of development and research to take in to account and as...

The video head impulse test: an aid to the diagnosis of spinocerebellar ataxias

Spinocerebellar and Friedreich ataxias (SCA and FA) by their nature present in neuro-otology clinics. The diagnosis is ultimately genetic but the authors investigated the characteristics of the VOR using the video head impulse test (vHIT) in order to distinguish between...