You searched for "genes"

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The structure and function of DNA

DNA structure and replication Genetic information within multicellular organisms, including man, is stored in molecules of deoxyribonucleic acid (DNA), which reside within the chromosomes of each cell nucleus. A DNA molecule consists of two very long chains, or strands, of...

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...

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...

The changing landscape for hearing loss therapeutics: novel advances of gene and cell therapies

Recent years have seen advances in hearing loss therapeutics, with novel treatments trialled in humans, and others nearing promising first-in-kind clinical trials. First successful clinical trials for a specific form of genetic hearing loss Very exciting news has emerged in...

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...

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...