You searched for "Genetic"

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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...

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...

Scientific advances in mapping syndromic hearing loss

From more than 22000 genes that we humans have, approximately 3000 genes are associated with human communication. There are tens of syndromes which have been identified to be accompanied by hearing loss. Disorders of almost every organ of the body...

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...

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...

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...

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,...

In conversation with Chrysa Spyridakou, Robert Nash, Emma Clement, Nish Mehta and Anne GM Schilder

Jaclyn Tan interviews members of the London-based multidisciplinary hearing team, about their insights to auditory neuropathy spectrum disorder, and their vision for the future management of this challenging range of conditions. Auditory neuropathy spectrum disorder (ANSD) describes a wide range...

Cochlear Implants, Third Edition

Cochlear Implants is now in its third edition with the last addition being published in 2006. With the third edition being published in 2014 there have been eight years of development and research to take in to account and as...

One airway, one disease - not for everyone!

While 85% of asthmatic patients have rhinitis, only 20-30% with rhinitis have asthma. Together with atopic dermatitis (AD), rhinitis and asthma form a triad that tend to co-exist in patients (multimorbidity). This co-existence raises the possibility of genetic mechanism. Authors...

In this issue...Inner Ear Therapeutics

Emma Stapleton, MBChB, FRCS (ORL-HNS), Consultant Otolaryngologist, Cochlear Implant and Skull Base Surgeon, Manchester Royal Infirmary, UK. E: emmastapleton@doctors.org.ukTwitter: @otolaryngolofox Ralph Holme, Director of Research and Insight, RNID, UK. Ralph. E: Holme@rnid.org.uk W: www.rnid.org.uk For Mar/Apr 2022, we sang the...

Innovative approaches to treating deafness

Shahar Taiber and Karen Avraham give us a summary of gene therapies for hearing loss, with an overview of limitations and what the future holds. Hearing loss is the most common sensory disorder. The last two decades have seen a...