You searched for "genes"
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...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...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...
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...
Are we screening enough? Genetics in adult-onset sensorineural hearing loss
Sensorineural hearing loss (SNHL) in adults can be a result of multiple factors such as age, noise exposure and autoimmune pathology. In a group of patients, no cause is identified and the SNHL is treated as idiopathic. Authors evaluate 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...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...
