You searched for "Gene"

218 results found

Precision and personalised genomic and epigenomic medicine in audiology/hearing loss

A detailed look at the pathogenesis of acquired hearing loss due to exposure to ototoxicity during pregnancy or shortly after birth. Insights from genomic medicine have shown that, along with environmental factors causing epigenetic alterations, hearing loss may be caused...

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...

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...

Hearing loss and Alport syndrome

Alport syndrome (AS) includes a group of hereditary diseases caused by mutations in the COL4A3, COL4A4 or COL4A5 genes. These genes are responsible for the biosynthesis of α3, α4 and α5 collagen IV chains, which are located in the glomerular...

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 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...

Hyposalivation: a review of current and future treatments

Hyposalivation remains a stubbornly difficult condition to treat, but novel therapies may not be far away. Saliva has many essential functions, including aiding digestion and swallowing, lubrication, maintaining tooth integrity and antibacterial activity. When patients experience reduced saliva production (hyposalivation),...

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 of IP-III

The authors provide a literature review of the genetic basis and clinical features of incomplete partition (IP)-type III. The condition is seen typically in males and is due to mutation in the POU class 3 homeobox 4 (POU3F4) gene which...

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...

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,...