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NINDSNIMHNICHDNIDCDNEINIDCRNIANIAAANIDANHGRI NCCIHNIDDKNIEHSCCB

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Senior Investigator

Thomas B. Friedman, Ph.D.

Section on Human Genetics

Laboratory of Molecular Genetics
Building 35 Room 1F-141
Convent Drive
Bethesda MD 20892
Office: 301-496-7882
Lab: 301-402-7580

friedman@nidcd.nih.gov

Dr. Friedman received a B.S. and 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 the NIDCD as the Chief, Laboratory of Molecular Genetics. Dr. Friedman's Section on Human Genetics at the NIDCD studies hereditary hearing loss in humans and animal models. His laboratory also studies the functions (cell biology and biochemistry) of proteins encoded by genes associated with deafness.



The goal of our laboratory is to identify and characterize the molecular machines and pathways necessary for the development and maintenance of the inner ear. For the past 20 years, we have contributed to the understanding of the exquisite anatomical and physiological complexity of the inner ear by identifying many of the defective genes causing deafness (“deafness genes”) in humans and by studying their biological functions in animal models. We continue to ascertain large families segregating deafness in order to identify novel deafness chromosomal loci and genes.

The five interrelated research goals of the Section on Human Genetics are:

1. Ascertain large families segregating deafness.
2. Map genes for inherited forms of human syndromic and nonsyndromic deafness.
3. Identify mutant genes associated with deafness using whole exome and genome sequencing.
4. Engineer animal models that mimic human deafness to access pathophysiology.
5. Reveal the pathophysiology and wild type functions of “deafness genes.”

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 hearingand communication impairments.

Staff Image
  • Melanie Barzik, Ph.D.
    Research Fellow
    301-402-5332

  • Inna Belyantseva
    Staff Scientist
    301-435-8204

  • Jonathan Bird
    Research Fellow
    301-402-3381

  • Alexander Callahan
    Biologist

  • Joseph Duda
    Technical IRTA
    301-435-5310

  • Rabia Faridi
    Predoctoral Fellow
    301-594-4174

  • Ayesha Imtiaz
    Predoctoral Fellow
    301-435-5599

  • Gavin Riordan
    Special Volunteer
    301-435-5599

  • Elizabeth Wilson
    Biologist
    301-402-7903

  • Barbara Zwiesler
    Technical Lab Manager
    301-435-5599

  • 1) Drummond MC, Barzik M, Bird JE, Zhang DS, Lechene CP, Corey DP, Cunningham LL, Friedman TB (2015)
  • Live-cell imaging of actin dynamics reveals mechanisms of stereocilia length regulation in the inner ear
  • Nat Commun 2015 Apr 21, 6, 6873
  • 2) Fang Q, Indzhykulian AA, Mustapha M, Riordan GP, Dolan DF, Friedman TB, Belyantseva IA, Frolenkov GI, Camper SA, Bird JE (2015)
  • The 133-kDa N-terminal domain enables myosin 15 to maintain mechanotransducing stereocilia and is essential for hearing
  • eLIFE, 2015 Aug 24, 4
  • 3) 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
  • 4) Bird JE, Takagi Y, Billington N, Strub MP, Sellers JR, Friedman TB (2014)
  • Chaperone-enhanced purification of unconventional myosin 15, a molecular motor specialized for stereocilia protein trafficking
  • Proc Natl Acad Sci U S A, 2014 Aug 26. 111(34), 12390-5
  • 5) 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, 44, 1265-1271
  • 6) 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
  • 7) 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 (2010)
  • Actin-Bundling Protein TRIOBP Forms Resilient Rootlets of Hair Cell Stereocilia Essential for Hearing
  • Cell, Volume 141, Issue 5, 786-798
  • 8) 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
  • 9) Belyantseva IA, Boger ET, Naz S, Frolenkov GI, Sellers JR, Ahmed ZM, Griffith AJ, Friedman TB (2005)
  • Myosin-XVa is required for tip localization of whirlin and differential elongation of hair-cell stereocilia
  • Nature Cell Biology, 7(2), 148–56
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