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Botond Banfi, MD, PhD

Portrait
Associate Professor of Anatomy and Cell Biology
Associate Professor of Internal Medicine
Associate Professor of Otolaryngology

Contact Information

Office
425 EMRB
Iowa City, IA 52242
319-335-4228

Education

MD, Medicine, Semmelweis University Medical School
PhD, Physiology, Semmelweis Univerity
Fellow, Geriatrics, University Hospitals of Geneva

Education/Training Program Affiliations

Department of Cell and Developmental Graduate Program, Medical Scientist Training Program

Research Summary

Hereditary hearing loss is a frequent disorder, affecting about 1 in 1,000 babies. Analyses of mouse models of human hereditary hearing-loss cases have revealed that most deafness-causing mutations are associated with the death of mechanosensory hair cells in the hearing organ. Hair cells are essential for hearing, and they cannot regenerate spontaneously in humans, mice, and other mammals. Gene specific therapies are currently not available for non-syndromic hereditary deafness, and treatment options are limited to hearing aid and cochlear implants. We use gene discovery approaches to find ways to prevent gene mutation-associated hearing loss in mouse models of human deafness cases. Specifically, we identify genes that are critical for hearing, and we analyze the molecular functions of the encoded proteins to reveal therapeutic interventions that could compensate for the defects of the studied proteins (e.g., see in PMID: 29961578). Of the genes that are required for hearing, we are especially interested in those that encode transcription factors. Some of these transcription factors will potentially be useful, perhaps as components of a “molecular cocktail”, to overcome the gene regulatory barriers to hair cell regeneration in the hearing organ. Another group of regulatory proteins studied in our lab includes tissue-specifically expressed splicing factors; these factors can alter the exon compositions of specific mRNAs. We identify the exons that are regulated by these splicing factors, and we examine the physiological effects of the regulated splicing changes. Given that the splicing of many mRNAs is regulated similarly in hair cells and neurons, our research branches into the field of neuroscience.