Saima Riazuddin, PhD
Title
Assistant Professor, Division of Otolaryngology Head and Neck Surgery
Appointment
Assistant Professor, University of Cincinnati College of Medicine
Email
saima.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
BS: Biological Sciences, University of the Punjab, Lahore, Pakistan. 1995
MS: Biological Sciences, Quaid-i-Azam University, Islamabad, Pakistan. 1998
PhD: Molecular Genetics, University of the Punjab, Lahore, Pakistan. 2001
Position History
Postdoctoral Fellow: Laboratory of Molecular Genetics, National Institutes of Deafness and Other Communication Disorders, National Institues of Health, MD, USA. 2001-2005
National Research Council Research Associate: National Institute of Deafness and Other Communication Disorders, National Institutes of Health, Rockville, MD, USA 2005-2006
NIH Research Fellow: National Institute of Deafness and Other Communication Disorders, National Institutes of Health, Rockville, MD, USA.2006-2009
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
Research
Investigating molecular and genetic basis of hearing loss, utilizing human and mouse genetics to identify novel genes and pathways that underlie inherited human hearing impairment.
Publications, Most Recent
Riazuddin S, Anwar S, Fischer M, Ahmed ZM, Khan SY, Janssen AG, Zafar AU, Scholl U, Husnain T, Belyantseva IA, Friedman PL, Riazuddin S, Friedman TB, Fahlke C. Molecular basis of DFNB73: mutations of BSND can cause nonsyndromic deafness or Bartter syndrome. Am J Hum Genet. 2009 Aug;85(2):273-80. Epub 2009 Jul 30.
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. [Epub ahead of print]
Waryah AM, Rehman A, Ahmed ZM, Bashir ZH, Khan SY, Zafar AU, Riazuddin S, Friedman TB, Riazuddin S. DFNB74, a novel autosomal recessive nonsyndromic hearing impairment locus on chromosome 12q14.2-q15. Clin Genet. 2009 Sep;76(3):270-5. Epub 2009 Jul 23.
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. Am J Hum Genet 2009. 85(1):25-39.
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 Mar;75(3):237-43.
Ahmed ZM, Riazuddin S, Khan SN, Friedman PL, Riazuddin S, Friedman TB. USH1H, a novel locus for type I Usher syndrome, maps to chromosome 15q22-23. Clin Genet. 2009 Jan;75(1):86-91. Epub 2008 May 25.
Ahmed ZM, Kjellstrom S, Haywood-Watson RJ, Bush RA, Hampton LL, Battey JF, Riazuddin S, Frolenkov G, Sieving PA, Friedman TB. Double homozygous waltzer and Ames waltzer mice provide no evidence of retinal degeneration. Mol Vis. 2008;14:2227-36. Epub 2008 Dec 8.
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 Oct;124(3):215-23. Epub 2008 Aug 22.
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.
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 Jan;82(1):125-38.
Riazuddin S, Nazli S, Ahmed ZM, Yang Y, Zulfiqar F, Shaikh RS, Zafar AU, Khan SN, Sabar F, Javid FT, Wilcox ER, Tsilou E, Boger ET, Sellers JR, Belyantseva IA, Riazuddin S, Friedman TB. Mutation spectrum of MYO7A and evaluation of a novel nonsyndromic deafness DFNB2 allele with residual function. Hum Mutat. 2008 Apr;29(4):502-11.
Ain Q, Nazli S, Riazuddin S, Jaleel AU, Riazuddin SA, Zafar AU, Khan SN, Husnain T, Griffith AJ, Ahmed ZM, Friedman TB, Riazuddin S. The autosomal recessive nonsyndromic deafness locus DFNB72 is located on chromosome 19p13.3. Hum Genet. 2007 Dec;122(5):445-50. Epub 2007 Aug 10.
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 Feb;120(6):789-93. Epub 2006 Oct 26.
Khan SY, Ahmed ZM, 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 of the RDX gene cause nonsyndromic hearing loss at the DFNB24 locus. Hum Mutat. 2007 May;28(5):417-23.
Nal N, Ahmed ZM, Erkal E, Alper OM, Lüleci G, Dinç O, Waryah AM, Ain Q, Tasneem S, Husnain T, Chattaraj P, Riazuddin S, Boger E, Ghosh M, Kabra 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 Oct;28(10):1014-9.
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. Am J Hum Genet. 2006 Dec;79(6):1040-51. Epub 2006 Oct 31.
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. J Neurosci. 2006 Jun 28;26(26):7022-34.
Shabbir MI, Ahmed ZM, Khan SY, Riazuddin S, Waryah AM, Khan SN, Camps RD, Ghosh M, Kabra M, Belyantseva IA, Friedman TB, Riazuddin S. Mutations of human TMHS cause recessively inherited non-syndromic hearing loss. J Med Genet. 2006 Aug;43(8):634-40. Epub 2006 Feb 3.
Other Significant Papers
Kurima K, Peters LM, Yang Y, Riazuddin S, Ahmed ZM, Naz S, Arnaud D, Drury S, Mo J, Makishima T, Ghosh M, Menon PS, Deshmukh D, Oddoux C, Ostrer H, Khan S, Riazuddin S, Deininger PL, Hampton LL, Sullivan SL, Battey JF Jr, Keats BJ, Wilcox ER, Friedman TB, Griffith AJ. Dominant and recessive deafness caused by mutations of a novel gene, TMC1, required for cochlear hair-cell function. Nat Genet. 2002 Mar;30(3):277-84. Epub 2002 Feb 19.
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. 2001 Jan 12;104(1):165-72
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. Nat Genet. 2000 Dec;26(4):431-4. (featured on cover).
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
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:
