Thomas B. Friedman, Ph.D.
Laboratory of Molecular Genetics
Section on Human Genetics
Laboratory of Molecular Genetics
Porter Neuroscience Research Center
35A Convent Dr., Room 1F141
Bethesda, MD 20892-3729 For U.S. Postal Service
Bethesda, MD 20814 For other carriers (FedEx, UPS, etc.)
Phone: (301) 496-7882
Fax: (301) 402-7580
Dr. Friedman received a B.S. and his Ph.D. from the University of Michigan where he worked with Tahir Mohammed Rizki on the molecular genetics of purine metabolism in Drosophila. After postdoctoral work (studying galactosemia in humans) at the National Institute of Mental Health, he became a faculty member in the Department of Zoology and the Department of Pediatrics and Human Development at Michigan State University. For five years he was also the Director of the Interdepartmental Graduate Program in Genetics. In 1996, he joined NIDCD as the Chief, Laboratory of Molecular Genetics. Dr. Friedman's Section on Human Genetics at the NIDCD studies hereditary hearing loss and Usher Syndrome in humans and mouse models. His laboratory also studies the functions (cell biology and biochemistry) of proteins encoded by genes associated with deafness. Dr. Friedman helped to create the NIH's Usher Syndrome website, a joint resource from NIDCD and the National Eye Institute.
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Laboratory of Molecular Genetics
The goal of the Laboratory of Molecular Genetics is to identify, clone and characterize the genes that contribute to communication disorders. The Section on Human Genetics is studying the genes responsible for hereditary hearing impairment and hearing loss coupled with progressive loss of vision (Usher syndrome). Improved understanding of the mutated genes will provide important information on hearing and brain processing. The identification of the relevant genes will also permit early and more accurate diagnosis for certain forms of hereditary hearing and communication impairments as well as loss of sight.
Additional research information about the identification and location of the genes for nonsyndromic and syndromic hereditary hearing loss can be found on the Hereditary Hearing Loss home page.
Subjects Needed for Research Studies
At the Laboratory of Molecular Genetics, investigators are seeking research subjects from families to participate in research studies in the following areas:
Restoration of the elongation and staircase organization of abnormally short hair cell stereocilia bundles in myosin XVa mutant mice (shaker 2) and whirlin mutant mice after gene gun mediated transfection of wild-type GFP-myosin XVa and GFP-whirlin, respectively (Belyantseva et al., 2005) View larger image
Section on Human Genetics
Staff of the Section on Human Genetics identify and characterize dominant and recessive mutations which cause hereditary hearing impairment and Usher syndrome (hearing loss and retinal degeneration). Families from the United States, Pakistan, India and other countries are being studied to identify mutated genes that cause hereditary hearing impairment.
- Melanie Barzik, Ph.D., Research Fellow, 301-435-5599 (Send e-mail)
- Inna A. Belyantseva, M.D., Ph.D., Staff Scientist, 301-435-8204 (Send e-mail)
- Jonathan Bird, Ph.D., Postdoc Fellow (Visiting Fellow), 301-402-3381 (Send e-mail)
- Meghan Drummond, Ph.D., 301-435-8110 (Send e-mail)
- Stacey Cole, B.S., Post BAC IRTA, 301-402-4209 (Send e-mail)
- Barbara P. Zwiesler, M.S., Laboratory Manager, 301-402-4207 (Send e-mail)
- Elizabeth Wilson, B.S., Biologist, 301-402-7903 (Send e-mail)
- Atteeq Ur Rehman, Ph.D., Visiting Fellow (Send e-mail)
- Spencer Goodman, B.S., Post BAC IRTA, 301-402-5332 (Send e-mail)
- Eva Morozko, B.S., Post BAC IRTA, 301-402-7565 (Send e-mail)
- Brittany Whitley, B.S., Post BAC IRTA, 301-402-7853 (Send e-mail)
Am J Hum Genet Apr 2013
Cell May 2010
A noise damaged inner ear hair cell stained with antisera to gamma-actin.
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C.W. Cotterman Award
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The American Journal of Human Genetics 2010
Nature Cell Biology 2005
- Rehman AU, Santos-Cortez RL, Morell RJ, Drummond MC, Ito T, Lee K, Khan AA, Basra MA, Wasif N, Ayub M, Ali RA, Raza SI, University of Washington Center for Mendelian Genomics, Nickerson DA, Shendure J, Bamshad M, Riazuddin S, Billington N, Khan SN, Friedman PL, Griffith AJ, Ahmad W, Riazuddin S, Leal SM, Friedman TB. (2014) Mutations in TBC1D24, a gene associated with epilepsy, also cause nonsyndromic deafness DFNB86. Am J Hum Genet 2014 Jan 2;94(1):144-52. doi: 10.1016/j.ajhg.2013.12.004.
- Indzhykulian AA, Stepanyan R, Nelina A, Spinelli KJ, Ahmed ZM, Belyantseva IA, Friedman TB, Barr-Gillespie PG, Frolenkov GI. (2013) Molecular remodeling of tip links underlies mechanosensory regeneration in auditory hair cells. PLoS Biol. 2013;11(6):e1001583. doi: 10.1371/journal.pbio.1001583.Epub 2013 Jun 11.
- Jenkinson EM, Rehman AU, Walsh T, Clayton-Smith J, Lee K, Morell RJ, Drummond MC, Khan SN, Naeem MA, Rauf B, Billington N, Schultz JM, Urquhart JE, Lee MK, Berry A, Hanley NA, Mehta S, Cilliers D, Clayton PE, Kingston H, Smith MJ, Warner TT; University of Washington Center for Mendelian Genomics, Black GC, Trump D, Davis JR, Ahmad W, Leal SM, Riazuddin S, King MC, Friedman TB, Newman WG. (2013) Perrault syndrome is caused by recessive mutations in CLPP, encoding a mitochondrial ATP-dependent chambered protease. Am J Hum Genet. 2013 Apr 4;92(4):605-13. doi: 10.1016/j.ajhg.2013.02.013.Epub 2013 Mar 28.
- Riazuddin S, Belyantseva, IA, Giese APJ., Kwanghyuk L, Indzhyukulian AA, Nandamuri SP, Yousaf R, Sinha GP, Lee S, Terrell D, Hegde RS, Ali RA, Anwar S, Andre-Elizondo PB, Sirmaci A, Parise LV, Basit S, Wali A, Ayub M, Ansar M, Ahmad W, Khan S, Akram J, Tekin M, Riazuddin Sh, Cook T, Buschbeck EK, Frolenkov G, Leal SM, Friedman TB, Ahmed ZM. (2012) Alterations of the CIB2 calcium-and integrin-binding protein cause Usher syndrome type 1J and nonsyndromic deafness DFNB4. Nature Genetics Volume 44: pages 1265-1271
- Schultz JM, Bhatti R, Madeo AC, Turriff A, Muskett JA, Zalewski CK, King KA, Ahmed ZM, Riazuddin S, Ahmad N, Hussain Z, Qasim M, Kahn SN, Meltzer MR, Liu XZ, Munisamy M, Ghosh M, Rehm HL, Tsilou ET, Griffith AJ, Zein WM, Brewer CC, Riazuddin S, Friedman TB. (2011) Allelic hierarchy of CDH23 mutations causing non-syndromic deafness DFNB12 or Usher syndrome USH1D in compound heterozygotes. The Journal of Medical Genetics 48:767–775, 22 Sep 2011.
- Choi BY, Kim HM, Ito T, Lee KY, Li X, Monahan K, Wen Y, Wilson E, Kurima K, Saunders TL, Petralia RS, Wangemann P, Friedman TB, Griffith AJ. (2011) Mouse model of enlarged vestibular aqueducts defines temporal requirement of Slc26a4 expression for hearing acquisition. The Journal of Clinical Investigation 4516–4525, 1 Nov 2011.
- Rehman AU, Morell, RJ, Khan SY, Belyantseva IA, Boger ET, Shahzad M, Ahmed ZA, Riazuddin S, Khan SN, Friedman TB (2010) Targeted capture and next-generation sequencing identifies C9orf75, encoding TAPERIN, as the mutated gene in nonsyndromic deafness DFNB79. The American Journal of Human Genetics 86: 378-388.
- Borck G, Rehman AU, Lee K, Pogoda, H-M, Kakar N, von Ameln S, Grillet N, Hildebrand MS, Ahmed ZM, Nürnberg G, Ansar M, Basit S, Javed Q,. Morell RJ, Nasreen NA, Shearer AE, Ahmad A, Kahrizi K, Shaikh RS, RA A, Khan SN, Goebel I, Meyer NC, Kimberling WJ, Webster JA, Stephan D, Schiller M, Bahlo M, Najmabadi H, Gillespie PG, Nürnberg P, Wollnik B, Riazuddin S, Smith RJH, Ahmad W, Müller U, Hammerschmidt M, Friedman TB, Riazuddin S, Leal SM, Ahmad J, Kubisch C (2011) Loss-of-Function Mutations of ILDR1 Cause Autosomal-Recessive Hearing Impairment DFNB42. The American Journal of Human Genetics 88: 1-11.
- Kitajiri S, Sakamoto T, Belyantseva IA, Goodyear RJ, Stepanyan R, Fujiwara I, Bird JE, Riazuddin S, Ahmed ZM, Hinshaw JE, Sellers J, Bartles JR, Hammer JA, Richardson GP, Griffith AJ, Frolenkov GI, Friedman TB. Actin-Bundling Protein TRIOBP Forms Resilient Rootlets of Hair Cell Stereocilia Essential for Hearing. Cell, Volume 141, Issue 5, 786-798, 28 May 2010
- Schultz JM, Khan SN, Ahmed ZM, Riazuddin S, Waryah AM, Chhatre D, Starost MF, Ploplis B, Buckley S, Velásquez D, Kabra M, Lee K, Hassan MJ, Ali G, Ansar M, Ghosh M, Wilcox ER, Ahmad W, Merlino G, Leal SM, Riazuddin S, Friedman TB, Morell RJ.Noncoding mutations of HGF are associated with nonsyndromic hearing loss, DFNB39. Am J Hum Genet. 2009 Jul;85(1):25-39. Epub 2009 Jul 2.
- Khan SY, Riazuddin S, Shahzad M, Ahmed N, Zafar AU, Rehman AU, Morell RJ, Griffith AJ, Ahmed ZM, Riazuddin S, Friedman TB. DFNB79: reincarnation of a nonsyndromic deafness locus on chromosome 9q34.3. Eur J Hum Genet. 2009 Jul 15.
- Belyantseva IA, Perrin BJ, Sonnemann KJ, Zhu M, Stepanyan R, McGee J, Frolenkov GI, Walsh EJ, Friderici KH, Friedman TB, Ervasti JM. Gamma-actin is required for cytoskeletal maintenance but not development. Proc Natl Acad Sci U S A. 2009 Jun 16;106(24):9703-8. Epub 2009 Jun 3.
- Ahmed ZM, Masmoudi S, Kalay E, Belyantseva IA, Mosrati MA, Collin RW, Riazuddin S, Hmani-Aifa M, Venselaar H, Kawar MN, Tlili A, van der Zwaag B, Khan SY, Ayadi L, Riazuddin SA, Morell RJ, Griffith AJ, Charfedine I, Caylan R, Oostrik J, Karaguzel A, Ghorbel A, Riazuddin S, Friedman TB, Ayadi H, Kremer H.Mutations of LRTOMT, a fusion gene with alternative reading frames, cause nonsyndromic deafness in humans. Nat Genet. 2008 Nov;40(11):1335-40. Epub 2008 Oct 26.
- Riazuddin S, Ahmed ZM, Fanning AS, Lagziel A, Kitajiri S, Ramzan K, Khan SN, Chattaraj P, Friedman PL, Anderson JM, Belyantseva IA, Forge A, Riazuddin S, Friedman TB. Tricellulin is a tight-junction protein necessary for hearing. American Journal of Human Genetics 79(6):1040–51, 2006.
- Ahmed ZM, Goodyear R, Riazuddin S, Lagziel A, Legan PK, Behra M, Burgess SM, Lilley KS, Wilcox ER, Riazuddin S, Griffith AJ, Frolenkov GI, Belyantseva IA, Richardson GP, Friedman TB. The tip-link antigen, a protein associated with the transduction complex of sensory hair cells, is protocadherin-15. Journal of Neuroscience 26(26):7022–34, 2006.
- Belyantseva IA, Boger ET, Naz S, Frolenkov GI, Sellers JR, Ahmed ZM, Griffith AJ, Friedman TB. Myosin-XVa is required for tip localization of whirlin and differential elongation of hair-cell stereocilia. Nature Cell Biology 7(2):148–56, 2005.
- Belyantseva IA, Boger ET, Friedman TB. Myosin XVa localizes to the tips of inner ear sensory cell stereocilia and is essential for staircase formation of the hair bundle. Proceedings of the National Academy of Sciences of the USA 100:13958–63, 2003.
- Ben-Yosef T, Ness SL, Madeo AC, Bar-Lev A, Wolfman JH, Ahmed ZM, Desnick RJ, Willner JP, Avraham KB, Ostrer H, Oddoux C, Griffith AJ, Friedman TB. A Mutation of PCDH15 among Ashkenazi Jews with the Type 1 Usher Syndrome. New England Journal of Medicine 348:1664–1670, 2003.
- Kurima K, Peters LM, Yang Y, Riazuddin S, Ahmed AM, Naz S, Arnaud D, Drury S, Mo J, Makishima T, Ghosh M, Menon PSN, Deshmukh D, Oddoux C, Ostrer H, Khan S, Riazuddin S, Deininger PL, Hampton LL, Sullivan SL, Battey JF, Keats BJB, Wilcox ER, Friedman TB, Griffith AJ. Dominant and recessive deafness caused by mutations of a novel gene, TMC1, required for cochlear-hair cell function. Nature Genetics 30:277–284, 2002.
- Wilcox ER, Burton QL, Naz S, Riazuddin S, Smith TN, Ploplis B, Belyantseva I, Ben-Yosef T, Liburd NA, Morell RJ, Kachar B, Wu DK, Griffith AJ, Riazuddin S, Friedman TB. Mutations in the gene encoding tight junction Claudin-14 cause autosomal recessive deafness DFNB29. Cell 104:165–172, 2001.
- Riazuddin S, Castelein CM, Ahmed ZM, Lalwani AK, Mastroianni MA, Naz S, Smith TN, Liburd NA, Friedman TB, Griffith AJ, Riazuddin S, Wilcox ER. Dominant modifier DFNM1 suppresses recessive deafness DFNB26. Nature Genetics 26: 431, 2000.
- Morell R, Kim JH, Hood LJ, Goforth L, Friderici K, Fisher R, Van Camp G,Berlin CI, Oddoux C, Ostrer H, Keats B, Friedman TB. Mutations in the connexin 26 gene (GJB2) among Ashkenazi Jews with nonsyndromic recessive deafness. New England Journal of Medicine 399:1500–1505, 1998.