Zubair M. Ahmed, PhD

B.Sc.               1995               Medical Laboratory Technology, University of the Punjab, Lahore, Pakistan.

M.Sc.               1998               Biological Sciences, Quaid-i-Azam University, Islamabad, Pakistan.

Ph.D.               2002               Molecular Genetics, National Centre for Excellence in Molecular Biology (CEMB), University of the Punjab, Lahore, Pakistan.

Dr. Ahmed received his Bachelor and PhD degrees from the University of Punjab, Pakistan. He accomplished his pre-doctoral as well as his post-doctoral trainings at the National Institute for Deafness and Communication Disorders, NIDCD/NIH. In 2009 he joined the Cincinnati Children’s Hospital Medical Center, and University of Cincinnati, Cincinnati, Ohio as an Assistant Professor of Ophthalmology, Otolaryngology and Human Genetics. He was subsequently promoted to Associate Professor with tenure in 2013. In July 2014, Dr. Ahmed joined the University of Maryland as an Associate Professor of Otorhinolaryngology, Ophthalmology and Biochemistry. In July 2016, Dr. Ahmed was promoted to Professor rank. Dr Ahmed’s scientific accomplishments have earned several national and international awards, including Career Development Award by the RPB Foundation and a Medal of Honor by the President of Pakistan. He has been continuously funded as a principal investigator since 2007.

Dr. Ahmed long-term goal is to understand how the retinal and inner ear sensory epithelia develop and function. His lab study inherited human disorders of retina and inner ear, like Usher syndrome (USH) and Oculocutaneous Albinism (OCA) to improve our understanding of these organs at the molecular level, to study the pathophysiology of these disorders in animal models for the purpose of developing new strategies to prevent and treat these neurosensory disorders. The studies under investigation are designed to answer the following broad questions: What are the precise mechanisms of various forms of hearing and vision dysfunction? What are the genetic factors that determine light sensitivity? How do the pathogenic mutations in disease-causing genes affect the ear, eye and skin structure and function? And which molecules or genetic factors can exacerbate and/or mitigate the effects of disease-causing genes? For these studies, families segregating inherited USH and OCA are being collected. Mutant mouse and zebrafish models have been developed and his lab evaluates them to understand the function of new proteins. Functional analysis of the newly identified genes associated with deaf-blindness and OCA promises new insights into the molecular mechanisms of vision and auditory development and functions and will facilitate the rational design of potential therapies.

Genetic disorders of Ear and Eye, hearing loss, Usher syndrome, Retinitis pigmentosa, hearing restoration, gene therapy, Otitis media genetics, Inner ear development, Mechanotransduction, Calcium role in hearing and vision, Noise induced hearing loss, Genome editing

Yousaf S, Sethna S, Chaudhary MA, Shaikh RS, Riazuddin S, Ahmed ZM. Molecular characterization of SLC24A5 variants and evaluation of Nitisinone treatment efficacy in a zebrafish model of OCA6. Pigment Cell Melanoma Res. 2020; 33(4):556-565.

Sheikh SA, Sisk RA, Schiavon CR, Waryah YM, Usmani MA, Steel DH, Sayer JA, Narsani AK, Hufnagel RB, Riazuddin S, Kahn R, Waryah AM, Ahmed ZM. Homozygous variant in ARL3 causes autosomal recessive cone dystrophy. IOVS, 2019; 60(14):4811-4819.

Schrauwen I, Giese APJ, Aziz A, Lafont DT, Chakchouk I, Santos-Cortez RLP, Lee K, Acharya A, UWCMG, Nickerson DA, Bamshad MJ, Ali G, Riazuddin S, Ansar M, Ahmad W, Ahmed ZM, Leal SM. FAM92 underlies non-syndromic postaxial polydactyly in humans and an abnormal limb and digit skeletal phenotype in mice. J Bone and Mineral Res. 2019; 34(2):375-386.

Ahmed ZM, Jaworek TJ, Sarangdhar GN, Zheng L, Gul K, Khan SN, Friedman TB, Sisk RA, Bartles JR, Riazuddin Sh, Riazuddin S. In-frame deletion of human ESPN is associated with deafness, vestibulopathy and vision impairment. J Med Genet. 2018 Jul; 55(7):479-488.

Giese APJ, Tang YQ, Sinha GP, Bowl MR, Goldring AC, Parker A, Freeman MJ, Brown SDM, Riazuddin S, Fettiplace R, Schafer WR, Frolenkov GI, Ahmed ZM. CIB2 interacts with TMC1 and TMC2 and is essential for mechanotransduction in auditory hair cells. Nat Comm. 2017 8:43.

Shahzad M. Yousaf S, Waryah YM, Gul H, Kausar T, Tariq N, Mahmood U, Ali M, Khan MA, Waryah AM, Shaikh RS, Riazuddin S, Ahmed ZM, UWCMG. Molecular outcomes, clinical consequences, and genetic diagnosis of Oculocutaneous Albinism in Pakistani population. Sci Reports. 2017 Mar 7; 7:44185.

Riazuddin S, Hussain M, Razzaq A, Iqbak Z, Shahzad M, Polla DL, Song Y, van Beusekom K, Khan AA, Tomas-Roca L, Rashid M, Zahoor MY, Wissink-Lindhout WM, Basra MAR, Ansar M, Agha Z, van Heeswijk K, Rasheed F, M Van de Vorst, Veltman JA, Gilissen C, Akram J, Kleefstra T, Assir MZ, UK10K, Grozeva D, Carss K, Raymond HL, O’Connor TD, Riazuddin SA, Khan SN, Ahmed ZM, de Brouwer APM, van Bokhoven H, Riazuddin S. Exome sequencing of Pakistani Consanguineous Families identifies 30 novel candidate genes for recessive Intellectual Disability. Mol Psychiatry. [Epub ahed of print].

Waryah AM, Shahzad M, Shaikh H, Sheikh SA, Channa NA, Hufnagel RB, Makhdoom A, Riazuddin S, Ahmed ZM. A novel CHST3 allele associated with Spondyloepiphyseal dysplasia and hearing loss in Pakistani kindred. Clin Genet, 2016; 90:90-95. 

Fong KSK, Hufnagel RB, Khadka V, Corley MJ, Maunakea AK, Fogelgren B, Ahmed ZM, Lozanoff S. A mutation disrupting TET1 activity alters the expression of genes critical for neural tube closure in the tuft mouse. Dis Model Mech. 2016; 9:585-596.

Shahzad M, Campos JS, Tariq N, Serrano CH, Yousaf R, Jiménez-Cervantes C, Yousaf S, Waryah YM, Dad HA, Blue EM, Sobreira N, López-Giráldez F, UWCMG, Kausar T, Ali M, Waryah AM, Riazuddin S, Shaikh RS, García-Borrón JC, Ahmed ZM*. Identification and functional characterization of natural human melanocortin 1 receptor (MC1R) mutant alleles in Pakistani population. Pigment Cell Melanoma Res. 2015; 28:730-735.

Santos-Cortez RLP, Chiong CM, Reyes-Quintos MRT, Tantoco MLC, Wang X, Acharya A, Abbe I, Giese AP, Allen EK, Smith JD, Li B, Paz EMCL, Garcia MC,Llanes EGDV, Labra PJ, Gloria-Cruz TLI, Chan AL, Wang GT, Daly KA, UWCMG, Shendure J, Bamshad MJ, Nickerson DA, Patel JA, Riazuddin S, Sale MM, Chonmaitree T, Ahmed ZM, Abes GT, Leal SM. Rare A2ML1 variants confer susceptibility to Otitis Media. Nat Genet. 2015; 47(8):917-920.

Abrams AJ, Hufnagel RB, Rebelo A, Zanna C, Patel N, Gonzalez MA, Campeanu IJ, Griffin LB, Groenewald S, Strickland AV, Tao F, Speziani F, Abreu L, Schule R, Caporali L, La Morgia C, Maresca A, Liguori R, Lodi R, Ahmed ZM, Sund KL, Wang X, Krueger LA, Peng Y, Prada CE, Prows CA, Schorry EK, Antonellis A, Zimmerman HH, Abdul-Rahman OA, Yang Y, Downes SM, Prince J, Fontanesi F, Barrientos A, Nemeth AH, Carelli V, Huang T, Zuchner S, Dallman JE. Mutations in SLC25A46, encoding a UGO1-like protein, cause an optic atrophy spectrum disorder. Nat Genet. 2015; 47(8):926-932.

Shaikh RS, Reuter P, Sisk RA, Kausar T, Shahzad M, Maqsood MI, Yousif A, Ali M, Riazuddin S, Wissinger B, Ahmed ZM. Homozygous missense variant in the human CNGA3 channel causes cone-rod dystrophy. Eur J Hum Genet. 2015; 23(4):473-480.

Ahmed ZM, Frolenkov GI, Riazuddin S. Usher proteins in inner ear structure and function. Physiol Genomics. 2013; Nov 1;45(21):987-9.

Riazuddin S, Belyantseva I, Giese A, Lee K, Indzhykulian AA, Nandamuri SP, Yousaf R, Sinha GP, Lee S, Terrell D, Hegde RS, Ali RA, Anwar S, Andrade-Elizondo PB, Sirmaci A, Parise LV, Basit S, Wali A, Ayub M, Ansar M, Ahmad W, Khan SN, Akram J, Tekin M, Riazuddin S, Cook T, Buschbeck EK, Frolenkov GI, Leal SM, Friedman TB, Ahmed ZM. Alterations of the CIB2 calcium and integrin binding protein cause Usher syndrome type 1J and nonsyndromic deafness DFNB48. Nat Genet. 2012; 44(11):1265-1271. (featured in Editor’s Choice of Science).

Ahmed ZM, Yousaf R, Lee BC, Khan SN, Lee S, Lee K, Husnain T, Rehman AU, Bonneux, S, Ansar M, Ahmad W, Leal SM, Gladyshev VN, Belyantseva IA, Van Camp G, Riazuddin S, Friedman TB, Riazuddin S. Functional null mutations of MSRB3 encoding methionine sulfoxide reductase are associated with human deafness DFNB74. Am J Hum Genet. 2011; 88(1):19-29.

Kitajiri SI, Sakamoto T, Belyantseva IA, Goodyear RJ, Stepanyan R, Fujiwara I, Bird JE, Riazuddin S, 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. 2010; 141:786-798.

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):215-223.

Ahmed ZM, Masmoudi S, Kalay E, Belyantseva IA, Mosrati MA, Collin RWJ, Riazuddin S, Hmani-Aifa M, Venselaar H, Kawar MN, Abdelaziz T, Zwaag BVD, 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. Nat Genet. 2008; 40(11):1335-1340.

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; 79(6):1040-1051.

Ahmed ZM, Goodyear R, Riazuddin S, Lagziel A, Behra M, Burgess SM, Wilcox ER, Riazuddin S, Griffith AJ, Frolenkov G, Belyantseva IA, Richardson G, Friedman TB. The tip link antigen, a protein associated with the transduction complex of sensory hair cells, is protocadherin-15. J Neuroscience. 2006; 26:7022-7034. 

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. Nat Cell Bio. 2005; 7(2):148-156.

Ben-Yosef T, Ness SL, Madeo AC, Bar-Lev A, Wolfman JH, Ahmed ZM, Desnick RJ, Avraham KB, Ostrer H, Oddoux C, Griffith AJ, Friedman TB. A mutation of PCDH15 among Ashkenazi Jews with type I Usher syndrome. N Engl J Med. 2003; 348(17):1664-1670.

Kurima K, Peters LM, Yang Y, Riazuddin S, Ahmed ZM, 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 JFJr., 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. Nat Genet.2002;30(3):277-284.

Ahmed ZM, Riazuddin S, Bernstein SL, Ahmed Z, Khan S, Griffith AJ, Morell RJ, Friedman TB, Riazuddin S, Wilcox ER. Mutations of the protocadherin gene PCDH15 cause Usher syndrome type 1F. Am J Hum Genet. 2001; 69(1):25-34.

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; 26(4):431-434.