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UCL Ear Institute

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Dr Michael Bowl

Dr Michael Bowl

Principal Research Fellow

The Ear Institute

Faculty of Brain Sciences

Joined UCL
27th Jul 2020

Research summary

Currently, our limited knowledge of the genetic landscape of deafness is an impediment to: providing a genetic diagnosis to patients; the design of mechanistic studies; and, the development of therapeutic interventions. Indeed, we are still naïve to the complete genetic program that underlies cochlear sensory hair cell identity, function and maintenance. The research aim of my lab is to increase understanding of these genetic programs, with a particular focus on age-related hearing loss (ARHL). ARHL is a complex disease that is influenced by environmental factors and genetic susceptibility. Moreover, a recent Lancet Commission on Dementia (Livingston et al, 2017) identifies midlife peripheral hearing loss as the highest individual risk factor for dementia, and this is pertinent as ARHL is the most prevalent sensory deficit within the population (affects >30% of individuals older than 55-years). However, currently little is known about the genes underlying ARHL. Using the mouse as a model, my team and I utilise both forward and reverse genetic approaches to elaborate upon genes that are essential for mammalian hearing. In addition, we work closely with collaborators who are undertaking GWAS and exome sequencing screens in ARHL families/cohorts and generate CRISPR/Cas9-mediated mouse models for the highest-ranked genes/alleles arising from these studies. These models allow us to: validate the involvement of genes in ARHL causation; identify critical molecular and cellular processes occurring in the aging mammalian ear; determine the pathobiology associated with disease progression, something that is not possible in humans; and, assess for mechanistic links underlying cognitive decline associated with peripheral hearing loss.

Together this increased knowledge will lay the foundations necessary for developing therapeutic strategies to ameliorate progressive hearing loss, and potentially reduce dementia incidence.

Biography

I am a Principal Research Fellow at the UCL Ear Institute. I have a BSc (Hons) Medical Biochemistry and MPhil (Res) Molecular and Cellular Immunology and Oncology from the University of Birmingham, and completed my DPhil studies within the Nuffield Department of Clinical Medicine at the University of Oxford. In 2010, I joined the Mammalian Genetics Unit at the MRC Harwell Institute, initially as a Senior Investigator Scientist within the Genetics and Pathobiology of Deafness Programme and more recently as the Programme Lead for the Sensorineural Hearing Loss research. In this role, I have been heavily involved in large-scale phenotype- and gene-driven programmes aimed at uncovering gene function in the mouse. Using these approaches my team and I have successfully identified and characterized novel genes that are essential for mammalian auditory function. In July 2020, I joined the UCL Ear Institute as a Principal Research Fellow, and will begin a 3-year honorary MRC Senior Non-Clinical Fellowship in April 2022.

Publications