You searched for "genes"

804 results found

Branchio Oto Renal syndrome

Branchio Oto Renal Syndrome (BOR) is an autosomal dominant disorder with branchial, otologic and renal manifestations. The presence of clinical signs varies among and within affected families. Three causative genes for BOR syndrome have been reported thus far: EYA1, SIX1...

Genomic testing for deafness and its implications

Gene therapies for hearing loss are rapidly advancing and will be transitioning to clinical practice. Here, the authors explain why clinicians involved in managing these disorders need to be aware of these advances. Genomic testing in England was significantly reconfigured...

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...

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...

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...

Harnessing head and neck cancer genomics for personalised medicine

Luc Morris updates us on the future of cancer diagnosis and treatment, which lies in “personalised oncology”, where specific molecular alterations of each tumour will be identified, and matched with actionable alterations in existing therapies, ushering in the era of...

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...

A mouth-rinse test that can screen for oral cancer?

This paper presents a promising screening tool for oral cancer – using a simple chlorhexidine mouth-rinse. The hypermethylated ZNF582 and PAX1 markers were chosen based on previous studies using oral scraping methods of collection and have been shown to be...

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,...

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...

On the influence of sex on tinnitus burden and its phenotypes

One important aspect of the new paradigm in tinnitus research is to question basic assumptions. What associations does the sex of a person have with their experience of and reaction to tinnitus? Chris Cederroth raises the question and tells us...