Rick A Friedman
Professor of Otolaryngology and Neurosurgery
Research Topics
Genome-wide association analyses of age- and noise-induced hearing loss. Genome-wide association analysis of baseline vestibular function across inbred mouse strains. Establishing gene expression networks within the mouse cochlea utilizing eQTL and WGCNA.Research Overview
The focus of my laboratory is the identification and analysis of genes and networks contributing to complex traits involving hearing and balance in humans and mice [Presbycusis (ARHI), Meniere’s Disease (MD), and Noise-Induced Hearing Loss (NIHL)]. We identified and association between ARHI and SNP variation within the GRM7 gene. We have collected the largest sample to date of individuals with Meniere's disease and seek to identify associated genes and pathways. We are incorporating a systems-based genetic approach consisting of the integration of natural genetic variation in inbred strains and molecular phenotypes (cochlear eQTL) to study ARHI and NIHL in mice. In collaboration with A. Jake Lusis, Ph.D. we are adapting the Hybrid Mouse Diversity Panel as a resource for studying complex traits in the mouse (ARHI, NIHL, and vestibular function).Selected Publications
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Friedman RA, Van Laer, Huentelman, MJ, Sheth, SS, van Eyken, E, Corneveaux, JJ, Tembe, WD, Halperin, RF, Thorburn, AQ, Thys, S, Bonneux, S, Fransen, E, Huyghe, J, Pyykkö, I, Cremers, CWRJ, Kremer, H, Dhooge, I, Stephens, D, Orzan, E, Pfister, M, Bille, M, Parving, A, Sorri, M, van de Heyning, PH, Makmura, L, Ohmen, JD, Linthicum, FH, Fayad, JN, Pearson, JV, Craig, DW, Stephan, DA, van Camp, G. GRM7 Variants confer susceptibility to age-related hearing impairment. Hum Mol Genet. 2008 Dec. -PubMed -Link
Newman DL, Fisher LM, Ohmen J, Parody R, Fong CT, Frisina ST, Mapes F, Eddins DA, Robert Frisina D, Frisina RD, Friedman RA. GRM7 variants associated with age-related hearing loss based on auditory perception.Hear Res. 2012 Dec;294(1-2):125-32. doi: 10.1016/j.heares.2012.08.016. Epub 2012 Oct 25. -PubMed -Link
Niu H, Makmura L, Shen T, Sheth SS, Blair K, Friedman RA. Identification of two major loci that suppress hearing loss and cochlear dysmorphogenesis in Eya1(bor/bor) mice.Genomics. 2006 Sep;88(3):302-8. Epub 2006 Feb 20 -PubMed -Link
