You searched for "genomics"
100,000 Genomes Project: in conversation with Tess Lopez
For Jul/Aug 2021, ENT & Audiology News features several contributions from the 100,000 Genomes Project, and Tess Lopez very kindly agreed to talk to me about her involvement with the project, as well as sharing her personal experiences of having...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...Genetic discovery using animal models: presbyacusis
By their very nature, late-onset hereditary disorders offer a large window of opportunity for therapeutic intervention. However, before we can begin to think about strategies we need knowledge of the genetics and pathology underlying the condition. In this article we...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...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...Assessment of genetic disorders: congenital sensorineural hearing loss
Severe or profound sensorineural hearing impairment (SNHI) is a common birth defect, affecting approximately 1 in 1000 newborns [1]. SNHI may result from environmental causes or have a genetic basis. The genetic causes can be further subdivided into non-syndromic (isolated...
