Botond Banfi, MD, PhD
Associate Professor
Anatomy and Cell Biology
Office: 425 EMRB
Office Phone: 319-335-4228
Lab: 440H EMRB
319-467-4533
Lab Website: https://banfi.lab.uiowa.edu/research
Molecular basis of hearing loss and restoration of hearing in mouse models of human deafness
Research in my lab focuses on the identification of deafness causing mutations and on the restoration of hearing in animal models of human hereditary deafness. Hereditary hearing loss is a frequent condition, it is caused by many rare alleles. Mutations in ~150 genes have been linked to hearing loss in humans, and many more are likely to be discovered in the coming years. Genetic studies in humans (GWAS and WES) have generated long lists of novel candidate deafness genes; however, only some of these genes are true 'hits'. We use reverse genetics in mice to test the effects of candidate deafness genes on hearing; we analyze the molecular function of proteins encoded by the validated novel deafness genes; and we use small molecules and gene delivery approaches to restore hearing in mouse models of human hearing loss. Most recently, we established a high-throughput 'testing pipeline' to accelerate identification of deafness genes and move rapidly from identification to functional analysis and hearing restoration experiments. Currently, most of our functional analyses and hearing rescue efforts focus on deafness genes that encode transcription factors because some these regulators may prove useful in supporting artificially-induced cell regeneration in the hearing organ of deaf subjects.
PubMed link
Department/Program Affiliations:
Anatomy and Cell Biology