Mission Statement

The mission of the Section on Hereditary Disorders of the Ear is to better understand the molecular genetics of auditory development and inherited inner ear disorders.  To accomplish this goal we are studying both mouse and human inner ear genetic models.

Ongoing Projects

1. Study of mouse model of Branchio-Oto-Renal-Syndrome

2. Hereditary non-syndromic hearing loss.

• We have mapped two novel loci for autosomal dominant nonsyndromic hearing loss. We have characterized a novel mutation (T7511) in a mitochondrial tRNA responsible for a form of maternally inherited nonsyndromic hearing loss. (Sue et al, 1999).

3. Genetic mapping of otosclerosis

Research Staff

• Rick Friedman, M.D., Ph.D. Section Chief

• Kate Blair, Student Research Scholar

• Austin Chen, Student Research Scholar

• Elzbieta Biesiada, Ph.D., Senior Research Associate

• X. Cindy Li, M.D., Ph.D., Senior Research Associate

• Linna Makmura, Research Assistant

• Haoru Niu, MD, Ph.D., Post-doctorate Scientist

• Ten Shen, Research Assistant

Publications

1. Friedman RA, Adir V, Creshaw EB, Ryan AF, Rosenfeld MG. "A transgenic insertional inner ear mutation on mouse chromosome 1". Layrngoscope, 2000 Apr.;110(4):489-496.
   
2. Pelton DP, Sherman LS,Rizvi TA, Marchionni MA, Wood P, Friedman RA, Ratner N. "Ruffling membrane, stress fiber, cell spreading and proliferation abnormalities in human schwannoma cells. Oncogene 1998 17, 2195-2209.
   
3. Kozel, PH, Friedman RA, Erway LC, Yamoah EN, Liu LH, Riddle T, Duffy JJ, Doetschman T, Miller ML, Cardell EL, Shull GE. "Balance and hearing deficits in mice with a null mutation in the gene encoding plasma membrane Ca²⁺ATPase isoform 2". Journal of Biological Chemistry. 1998:273;18693-18696.
   
4. Paradies, NE, Sanford LP, Doetschman T, Friedman RA. "Developmental expression of the TGF-betas in the mouse cochlea. Mechanisms of Development (79)1-2 (1998) pp. 161-168.
   
5. Johnson K, Cook S, Erway L, Matthews A,Sanford L, Paradies N, Friedman RA. "Inner ear and kidney anomalies caused by IAP insertion in an intron of the Eya1 gene in a mouse model of BOR syndrome. Hum Mol Genet. 1999 Apr.; 8(4):645-653. 
   
6. Friedman RA, Bykhovskaya Y, Sue CM DiMauro S, Bradley R, Fallis R, Paradies N, Pensak ML, Smith RJ, Groden J, Li XC, Fischel-Ghodsian N. "Maternally inherited non-syndromic hearing loss". Am J Med Genet 1999 Jun.4; 84(4):369-372.
   
7. Angeli SI, Naranjo C, Friedman RA, Naranjo A, Henriquez O, Fischel-Ghodsian N, Chiossone E. "An analysis of a large postlingually deaf family with hereditary non-syndromic profound hearing loss. Acta Otolaryngol (Stockh) 1999 Mar.; 119(2):158-162.
   
8. Sue CM, Tanji K, Hadjigeorgiou G, Andreu AL, Nishino I, Krishna S, Bruno C, Hirano M, Shanske S, Bonilla E, Fischel-Ghodsian N, DiMaurao S, Friedman RA. "Maternally inherited hearing loss in a large kindred with a novel T7511C mutation in the mitochondrial DNA tRNA (ser (UCN)) gene. Neurobogy 1999 Jun. 10;52(9): 1905-1908.
   
9. Sanford LP, Ormsby I, Gittenberger-de Grott AC, Friedman RA., Sariola H, Boyvin G, Cardell ELS, Doetschman T. "Transforming growth factor b2: Essential for multiple epithelial mesenchymal interactions in mouse development". Development 1997; 124:2659-2670.
   
10. Li XC, Syms M, Friedman RA. "A new locus for autosomal dominant non-syndromic hearing loss, DFNA 29, maps to chromosome 9". (manuscript in prep).