You searched for "genetics"
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...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...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,...
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...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...What you need to know about recent advances in genetics of hearing loss in the newborn
Identifying the underlying genetic cause of hearing loss in newborns can improve dramatically the early diagnosis and appropriate intervention. Hearing loss is the most common sensory disorder at birth, affecting approximately two out of 1000 newborns [1]. Congenital impaired hearing...Cancer genetics and signalling pathways in ENT – a review and discussion of how this can be applied to rare tumours
Introduction Cancer cases continue to increase worldwide, and head and neck cancer is a major global health issue, with an estimated global burden of over 630,000 new cases and over 350,000 deaths per year [1]. The term ‘head and neck...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...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,...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...SEQaBOO: SEQuencing a Baby for an Optimal Outcome
There are at least 15 countries now running genome sequencing projects. The team in Manchester, UK, and Boston, USA, share their SEQaBOO project. Abstract SEQaBOO (SEQuencing a Baby for an Optimal Outcome) will transform newborn hearing screening (NBHS) by bringing...
