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Saima Riazuddin, PhD.

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Saima Riazuddin, PhD

Title

Assistant Professor, Division of Otolaryngology Head and Neck Surgery

Appointment

Assistant Professor, University of Cincinnati College of Medicine

Email

saime.riazuddin@cchmc.org

Phone

513-803-2888

Fax

513-803-2899

Bio

Saima Riazuddin, PhD is head of the Laboratory of Molecular Genetics and Assistant Professor in the Division of Pediatric Otolaryngolgoy, Head and Neck Surgery at the Cincinnati Children’s Research Foundation. She holds secondary appointments in the Division of Opthalmology at the Cincinnati Children’s Research Foundation and the Departments of Otolaryngolgoy and Ophthalmology at the University of Cincinnati.

Dr. Riazuddin is interested in the molecular and genetic basis of Hearing impairment. She utilizes human and mouse genetics to identify novel genes and pathways that underlie inherited human hearing impairment.


Visit the Riazuddin lab web site.

Credentials

PhD: 2001, Molecular Genetics, University of the Punjab, Lahore, Pakistan.
Postdoctoral fellow: 2001-2005, Laboratory of Molecular Genetics, National Institutes of Deafness and Other Communication Disorders, National Institues of Health, MD, USA.
National Research Council Research Associate: 2005-2006, National Institute of Deafness and Other Communication Disorders, National Institutes of Health, Rockville, MD, USA
NIH Research Fellow: 2006-2009, National Institute of Deafness and Other Communication Disorders, National Institutes of Health, Rockville, MD, USA.

Awards and Honors

  • TWAS Young Affiliateship from Central and South Asian region 2008
  • C.W. Cotterman award by the American Society of Human Genetics 2007
  • Pride of Performance awarded by the President of Pakistan for Research Excellence 2007
  • National Research Council Fellowship Research Award 2005
  • Fatima Jinnah Gold Medal for Research Excellence 2005
  • Roll of Honors by Lahore College for Women 1995

Publications, Most Recent

Riazuddin S, Anwar S, Janssen A, Ahmed ZM, Khan SY, Belyantseva I, Jochen E, Friedman PL, Riazuddin S, Fahlke C, Friedman TB. Molecular basis of DFNB73: mutations of BSND are associated with nonsyndromic deafness or Bartter syndrome.American Journal of Human Genetics 2009. In press.

Riazuddin S*, Khan SY*, Shahzad M, Ahmed Z, Zafar AU, Griffith AJ, Ahmed ZM, Riazuddin S and , Friedman TB. DFNB79:reincarnation of a nonsyndromic deafness locus on chromosome9q34.3. Eur J Hum Genet 2009. In press.

Waryah AM, Rehman AU, Ahmed ZM, Bashir ZH, Khan SY, Zafar AU, Riazuddin S, Friedman TB, and Riazuddin S. DFNB74,a new autosomal recessive nonsyndromic hearing impairment locus at chromosome12q14.2-q15.Clinical genetics 2009. In press.

Schultz JM, Khan SY, Ahmed ZM, Riazuddin S, Chatre D, Ploplis B, Buckley S, Velasquez D, Kabra M, Ghosh M, Wilcox ER, Ahmad W, Leal SM, Merlino G, Riazuddin S, Friedman TB, Morell RJ. Mutations in HGF3 cause nonsyndromic recessive deafness,DFNB39.American Journal of Human Genetics 2009. 85(1):25-39.

Anwar S, Riazuddin S, Ahmed ZM, Tasneem S, Jaleel AU, Khan SY, Griffith AJ, Friedman TB, Riazuddin S. SLC26A4 mutation spectrum associated with DFNB4 deafness and Pendred's syndrome in Pakistanis.J Hum Genet 2009. 54(5):266-70

Choi BY, Ahmed ZM, Riazuddin S, Bhinder MA, Shahzad M, Husnain T, Riazuddin S, Griffith AJ, Friedman TB. Identities and frequencies of mutations of the otoferlin gene OTOF causing DFNB9 deafness in Pakistan.Clin Genet (2009). 75: 237-43

Ahmed ZM, Riazuddin S, Khan S, Friedman P, Riazuddin S, Friedman TB. USH1H, a novel locus for type I Usher syndrome, maps to chromosome 15q22-23. Clin Genet 2009. 75:86-91.

Ahmed ZM, Kjellstrom S, Haywood-Watson II RJL, Bush RA, Hampton LL, Battey JF, Riazuddin S, Forlenkov G, Sieving PA, Friedman TB. Double homozygous waltzer and Ames waltzer mice provide no evidence of retinal degeneration.Mol Vis 2008. 14: 2227-2336.

Ahmed ZM, Riazuddin S, Aye S, Ali RA, Venselaar H, Anwar S, Belyantseva PP, Qasim M, Riazuddin S, Friedman TB. Gene structure and mutant alleles of PCDH15: nonsyndromic deafness DFNB23 and type 1 Usher syndrome.Hum Genet 2008. 124(3):215-23.

Ahmed ZM, Masmoudi S, Kalay E, Belyantseva IA, Mosrati MA, Collin RWJ, Riazuddin S, Hmani-Aifa M, Venselaar H, Kawar MN, Abdelaziz T, van der Zwaag B, Khan SY, Ayadi L, Riazuddin SA, Morell RJ, Griffith AJ, Charfedine I, Çaylan 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.Nature Genetics 2008. 40: 1335-1340.

Collin RW, Kalay E, Tariq M, Peters T, van der Zwaag B, Venselaar H, Oostrik J, Lee K, Ahmed ZM, Caylan R, Li Y, Spierenburg HA, Eyupoglu E, Heister A, Riazuddin S, Bahat E, Ansar M, Arslan S, Wollnik B, Brunner HG, Cremers CW, Karaguzel A, Ahmad W, Cremers FP, Vriend G, Friedman TB, Riazuddin S, Leal SM, Kremer H. Mutations of ESRRB Encoding Estrogen-Related Receptor Beta Cause Autosomal-Recessive Nonsyndromic Hearing Impairment DFNB35.Am J Hum Genet 2008. 82:125-138.

Riazuddin S, Nazli S, Sadiq R, Yang Yi, Khan SN, Sabir F, Javid FT, Wilcox ER, Boger ET, Seller JR, Ahmed ZM, Riazuddin S, Friedman TB 2008. Mutation spectrum of MYO7A and evaluation of a novel nonsyndromic deafness DFNB2 allele with residual function. Hum Mut. 29:502-511.

Ain Q, Nazli S, Riazuddin S, Jaleel A, Riazuddin SA, Zafar AU, Khan SN, Husnain T, Griffith AJ, Ahmed ZM, Friedman TB, Riazuddin S 2007. The autosomal recessive nonsyndromic deafness locus DFNB72 is located on chromosome 19p13.3. Hum Genet. 122:445-450.

Khan SY, Riazuddin S, Tariq M, Anwar S, Shabbir MI, Riazuddin SA, Khan SN, Husnain T, Ahmed ZM, Friedman TB, Riazuddin S. Autosomal Recessive Nonsyndromic Deafness Locus DFNB63 at Chromosome 11q13.2-q13.3.Hum Genet 2007 120:789-793.

Ahmed ZM, Khan SY, Shabbir MI, Kitajiri S, Kalsoom S, Tasneem S, Shayiq S, Ramesh A, Srisailpathy S, Khan SN, Smith RJ, Riazuddin S, Friedman TB, Riazuddin S. Mutations in RDX cause nonsyndromic recessive hearing loss. Hum Mutat. 2007 28(5):417-423.

Ahmed ZM, Nal N, Erkal E, Alper O, Lüleci G, Dinç O, Chattaraj P, Riazuddin S, Boger E, Kabra M, Ghosh M, Riazuddin S, Morell RJ, Friedman TB. Mutational spectrum of MYO15A: the large N-terminal extension of myosin XVA is required for hearing.Hum Mutat 2007 28(10):1014-1019.

Riazuddin S, Ramzan K, Ahmed ZM, Fanning AS, Lagziel A, Kitajiri S, Ramzan K, Khan SN, Chattaraj P, Friedman PL, Anderson JM, Belyantseva I, Forge A, Riazuddin S, Friedman TB 2006 Tricellulin: A Novel Tight Junction Protein Necessary for Hearing. American Journal of Human Genetics. 79:1040-1051. (featured in editor’s choice).

Ahmed ZM, Goodyear R, Riazuddin S, Lagziel A, , Behra M, Burgess SM, Wilcox ER, Riazuddin S, Griffith AJ, Frolenkov G, Belyantseva I, Richardson G, Friedman TB 2006 The tip-link antigen, a protein associated with the transduction complex of sensory hair cells, is protocadherin-15.Journal of Neuroscience. 26:7022-34.

Ahmed ZM, Shabbir I, Khan SN, Riazuddin S, Ghosh M, Kabra M, Morell RJ, Belyantseva I, Friedman TB, Riazuddin S 2006 Mutations of human TMHS cause recessively inherited nonsyndromic hearing loss. Journal of Medical Genetics. 43:634-40.

Riazuddin S, Khan SN, Ahmed ZM, Ghosh M, Caution K, Nazli S, Kabra M, Zafar AU, Chen K, Naz S, Antonellis A, Pavan WJ, Green ED, Wilcox ER, Friedman PL, Morell RJ, Riazuddin S and Friedman TB 2006 Mutations in TRIOBP, encoding a putative cytoskeletal organizing protein, are associated with nonsyndromic recessive deafness.American Journal of Human Genetics. 78:137-43.

Shabbir MI, Ahmed ZM, Khan SY, Riazuddin S, Waryah AM, Khan SN, Camps RD, Ghosh M, Kabra M, Belyantseva IA, Friedman TB, Riazuddin S 2006 Mutations of human TMHS cause recessively inherited non-syndromic hearing loss. Journal of Medical Genetics. 43:634-40.

Presentations, Most Recent

Molecular and Genetic basis of human hereditary hearing loss; 19th General Meeting and 25th Anniversary celebration of TWAS at Mexico City, Mexico, November 10-13, 2008.

Tricellulin at the junction of three epithelial cells is necessary for hearing; Invited talk at the Michigan State University, East Lansing, MI, January 08, 2007.

Mutations of TRIC, encoding a novel tight junction protein are associated with DFNB49 nonsyndromic hearing loss; Annual meeting of the Association for Research in Otolaryngology at Denver, CO, February 13, 2007.

Family Ascertainment, Gene Mapping and Positional Cloning of three genes associated with Human Hereditary Hearing loss at the Federal Bureau of Investigations (FBI) headquarters, Quantico, VA, April 2006.

Evidence for the Existence of DFNB2 and Functional Evaluation of Mutant Myosin-VIIa; First International symposium on Usher syndrome at Omaha, NE, October 4, 2006.

Professional Organization Memberships

Special Interests

Molecular and genetic basis of hearing impairment

Other

  • University of Cincinnati Department of Otolaryngology
  • University of Cincinnati Department of Ophthalmology
  • Postdoctoral and graduate students are welcome and encouraged to apply. For more information, please contact Saima Riazuddin at 513-803-2888.

Related Areas

This person works in these other areas at Cincinnati Children's Hospital Medical Center: