Genetics of Deafness in Mice and Men

Grand Rounds – Sponsored by the Department of Otolaryngology - Head and Neck Surgery

Featuring Mirna Mustapha-Chaib, Ph.D.
Post-doctoral Research Investigator
Department of Human Genetics
The University of Michigan Medical School

Location: UC Irvine Medical Center - Bldg 33, Dugan-Brauel Conference Room
Questions can be directed to Abby Copeland at acopelan@uci.edu; 949-824-9107 

Abstract:
Identification of genes that cause deafness in humans and mice holds great promise for understanding the genetic and molecular mechanisms underlying development and biological function of the auditory system. Genetic studies in geographically isolated families as well as in spontaneously arising mouse models have proven effective in cloning and identifying deafness genes. Mouse genetics offers many advantages over human genetics in identification and understanding of gene function in mammals. I will discuss excellent examples of how mouse and human genetics can work synergistically to advance our understanding in syndromic (Usher’s syndromes, thyroid hormone deficiency) as well as nonsyndromic deafness. Mutations in myosin VIIa underlie nonsyndromic and syndromic (Usher syndrome) forms of deafness. There are many unexplained forms of nonsyndromic deafness and Usher’s syndrome and many myosin genes whose functions remain unexplored. Discovery of new molecular motors that function in sensory perception and knowledge of their specific roles and cargos will lead to better understanding in differentiation and function of inner ear hair cells.