Hearing loss affects 3 in every 1000 babies and is the most frequent health complication at birth in developed countries. Children with significant hearing problems encounter challenges in speech development, education and language acquisition. It is vital that the cause of hearing impairment is identified as soon as possible in an affected individual to allow effective treatment. We have been working to find some of the causes of inherited hearing loss and introduce effective genetic testing into clinical care.
Perrault syndrome is a rare inherited condition where women experience hearing loss and ovarian problems resulting in infertility. Many genes when altered can lead to this condition. We have been working on finding these genes and then how they work so that in time we can develop treatments and better understand how hearing is affected.
Genome sequencing in newborn screening to improve diagnosis of hearing loss is a project led by Professor Morton. Professor Morton is a world authority on the genetics of hearing loss based at Harvard University and has been appointed to the University of Manchester to explore research opportunities to improve the care of patients with hearing loss.
Vestibular schwannomas: Dr Smith and Professor Evans are working to discover the genetic variants that cause vestibular schwannomas, which are benign brain tumours, that can occur in an inherited condition called Neurofibromatosis type 2 and result in hearing loss.
Genome sequencing in the 100,000 Genomes Project: Professor Black with Professor Iain Bruce are overseeing a study to improve the rate of diagnosis of genetic hearing loss using whole genome sequencing.
Also see the PALOH project on the pharmacogenetics research page.
Heimler syndrome is a rare inherited condition characterized by hearing and visual impairment and brittle teeth (amelogenesis imperfecta). In 2015 alongside colleagues from across the world we identified that changes in two genes called PEX1 and PEX6 which usually cause a much more severe childhood disease result in this condition.