Anne B.S. Giersch, PhD
Assistant Professor of Pathology Department of Pathology
Brigham and Women’s Hospital and Harvard Medical School
Anne received her B.A. in Biology from Dartmouth College in New Hampshire in 1986 and her Ph.D. in Molecular Biology/Microbiology from Tufts University School of Medicine in 1994. She joined the Department of Pathology, Brigham and Women’s Hospital, Harvard Medical School as a Research Fellow in 1995, and was promoted to the rank of Assistant Professor in 2004. She is also a board certified Clinical Cytogeneticist at Brigham and Women’s Hospital, and has been in clinical practice since 2001.
Anne has been conducting research in the genetics of hearing and hearing loss since 1995, focusing in particular on genetic factors that influence age-related hearing impairment (ARHI). Her current investigations involve using RNA-seq to study gene expression in the mouse inner ear as a model of age-related hearing loss. She is interested in uniting these mouse models with human studies, using genome wide association studies to identify genes involved in age related hearing loss in humans.
Anne is also an experienced instructor in genetics and molecular biology as the former course director for the Harvard Medical School/MIT Health Sciences and Technology core course “Molecular Biology and Genetics in Modern Medicine”. Currently, she serves as an international collaborator in the Rare Disease Hearing and Sight Domain of the Genomics England Clinical Interpretation Partnership (GeCIP) and a member of the ClinGen Expert Panel for Hearing Loss.
- Giersch AB, Bieber FR, Dubuc AM, Fletcher JA, Ligon AH, Mason-Suares H, Morton CC, Weremowicz S, Xiao S, Dal Cin P. Reporting of Diagnostic Cytogenetic Results. Curr Protoc Hum Genet. 2016; 89:A.1D.1-A.1D.23. PMID: 27037490.
- Girotto G, Scheffer DI, Morgan A, Vozzi D, Rubinato E, Di Stazio M, Muzzi E, Pensiero S, Giersch AB, Corey DP, Gasparini P. PSIP1/LEDGF: a new gene likely involved in sensorineural progressive hearing loss. Sci Rep. 2015; 5:18568. PMID: 26689366.
- Robertson NG, O’Malley JT, Ong CA, Giersch AB, Shen J, Stankovic KM, Morton CC. Cochlin in normal middle ear and abnormal middle ear deposits in DFNA9 and Coch (G88E/G88E) mice. J Assoc Res Otolaryngol. 2014 Dec; 15(6):961-74. PMID: 25049087; PMCID: PMC4389958
- Ligon AH, Morton CC, Bieber FR, Fletcher JA, Giersch AB, Kantarci S, Leach N, Lee C, Sandstrom M, Weremowicz S, Xiao S, Dal Cin P. Reporting of diagnostic cytogenetic results. Curr Protoc Hum Genet. 2011 Jul;Appendix 1:1D. PubMed PMID: 21735374.
- Jones SM, Robertson NG, Given S, Giersch AB, Liberman MC, Morton CC. Hearing and vestibular deficits in the Coch(-/-) null mouse model: comparison to the Coch(G88E/G88E) mouse and to DFNA9 hearing and balance disorder. Hear Res. 2011 Feb;272(1-2):42-8. PubMed PMID: 21073934; PubMed Central PMCID: PMC3039082.
- Ligon AH, Morton CC, Bieber FR, Fletcher JA, Giersch AB, Kantarci S, Leach N, Lee C, Sandstrom M, Weremowicz S, Xiao S, Dal Cin P. Reporting of diagnostic cytogenetic results. Curr Protoc Hum Genet. 2010 Oct;Appendix 1:1D.1-23. PubMed PMID: 20891028.
- Robertson NG, Jones SM, Sivakumaran TA, Giersch AB, Jurado SA, Call LM, Miller CE, Maison SF, Liberman MC, Morton CC. A targeted Coch missense mutation: a knock-in mouse model for DFNA9 late-onset hearing loss and vestibular dysfunction. Hum Mol Genet. 2008 Nov 1;17(21):3426-34. PubMed PMID: 18697796; PubMed Central PMCID: PMC2566528.
- Williamson RE, Darrow KN, Giersch AB, Resendes BL, Huang M, Conrad GW, Chen ZY, Liberman MC, Morton CC, Tasheva ES. Expression studies of osteoglycin/mimecan (OGN) in the cochlea and auditory phenotype of Ogn-deficient mice. Hear Res. 2008 Mar;237(1-2):57-65. PubMed PMID: 18243607; PubMed Central PMCID: PMC2518649.
- Gabashvili IS, Sokolowski BH, Morton CC, Giersch AB. Ion channel gene expression in the inner ear. J Assoc Res Otolaryngol. 2007 Sep;8(3):305-28. PubMed PMID: 17541769; PubMed Central PMCID: PMC2538437.
- Sivakumaran TA, Resendes BL, Robertson NG, Giersch AB, Morton CC. Characterization of an abundant COL9A1 transcript in the cochlea with a novel 3′ UTR: Expression studies and detection of miRNA target sequence. J Assoc Res Otolaryngol. 2006 Jun;7(2):160-72. PubMed PMID: 16718610; PubMed Central PMCID: PMC2504574.
- Ligon AH, Morton CC, Bieber FR, Fletcher JA, Giersch AB, Lee C, Sandstrom M, Weremowicz S, Xiao S, Dal Cin P. Reporting of diagnostic cytogenetic results. Curr Protoc Hum Genet. 2004 Nov;Appendix 1:Appendix 1D. PubMed PMID: 18428350.
- Resendes BL, Kuo SF, Robertson NG, Giersch AB, Honrubia D, Ohara O, Adams JC, Morton CC. Isolation from cochlea of a novel human intronless gene with predominant fetal expression. J Assoc Res Otolaryngol. 2004 Jun;5(2):185-202. PubMed PMID: 15357420; PubMed Central PMCID: PMC2538407.
- Stover EH, Borthwick KJ, Bavalia C, Eady N, Fritz DM, Rungroj N, Giersch AB, Morton CC, Axon PR, Akil I, Al-Sabban EA, Baguley DM, Bianca S, Bakkaloglu A, Bircan Z, Chauveau D, Clermont MJ, Guala A, Hulton SA, Kroes H, Li Volti G, Mir S, Mocan H, Nayir A, Ozen S, Rodriguez Soriano J, Sanjad SA, Tasic V, Taylor CM, Topaloglu R, Smith AN, Karet FE. Novel ATP6V1B1 and ATP6V0A4 mutations in autosomal recessive distal renal tubular acidosis with new evidence for hearing loss. J Med Genet. 2002 Nov;39(11):796-803. PubMed PMID: 12414817; PubMed Central PMCID: PMC1735017.
- Lynch M, Cameron TL, Knight M, Kwok TY, Thomas P, Forrest SM, Giersch AB, Briggs RJ, Pyman BC. Structural and mutational analysis of antiquitin as a candidate gene for Menière disease. Am J Med Genet. 2002 Jul 15;110(4):397-9. PubMed PMID: 12116217.
- Skvorak AB, Weng Z, Yee AJ, Robertson NG, Morton CC. Human cochlear expressed sequence tags provide insight into cochlear gene expression and identify candidate genes for deafness. Hum Mol Genet. 1999 Mar;8(3):439-52. PubMed PMID: 9949203.
- Karet FE, Finberg KE, Nelson RD, Nayir A, Mocan H, Sanjad SA, Rodriguez-Soriano J, Santos F, Cremers CW, Di Pietro A, Hoffbrand BI, Winiarski J, Bakkaloglu A, Ozen S, Dusunsel R, Goodyer P, Hulton SA, Wu DK, Skvorak AB, Morton CC, Cunningham MJ, Jha V, Lifton RP. Mutations in the gene encoding B1 subunit of H+-ATPase cause renal tubular acidosis with sensorineural deafness. Nat Genet. 1999 Jan;21(1):84-90. PubMed PMID: 9916796.
- Vahava O, Morell R, Lynch ED, Weiss S, Kagan ME, Ahituv N, Morrow JE, Lee MK, Skvorak AB, Morton CC, Blumenfeld A, Frydman M, Friedman TB, King MC, Avraham KB. Mutation in transcription factor POU4F3 associated with inherited progressive hearing loss in humans. Science. 1998 Mar 20;279(5358):1950-4. PubMed PMID: 9506947.
- Robertson NG, Skvorak AB, Yin Y, Weremowicz S, Johnson KR, Kovatch KA, Battey JF, Bieber FR, Morton CC. Mapping and characterization of a novel cochlear gene in human and in mouse: a positional candidate gene for a deafness disorder, DFNA9. Genomics. 1997 Dec 15;46(3):345-54. PubMed PMID: 9441737.
- Skvorak AB, Robertson NG, Yin Y, Weremowicz S, Her H, Bieber FR, Beisel KW, Lynch ED, Beier DR, Morton CC. An ancient conserved gene expressed in the human inner ear: identification, expression analysis, and chromosomal mapping of human and mouse antiquitin (ATQ1). Genomics. 1997 Dec 1;46(2):191-9. PubMed PMID: 9417906.
- Greinwald JH Jr, Scott DA, Marietta JR, Carmi R, Manaligod J, Ramesh A, Zbar RI, Kraft ML, Elbedour K, Yairi Y, Musy M, Skvorak AB, Van Camp G, Srisailapathy CR, Lovett M, Morton CC, Sheffield VC, Smith RJ. Construction of P1-derived artificial chromosome and yeast artificial chromosome contigs encompassing the DFNB7 and DFNB11 region of chromosome 9q13-21. Genome Res. 1997 Sep;7(9):879-86. PubMed PMID: 9314493.
- Avraham KB, Hasson T, Sobe T, Balsara B, Testa JR, Skvorak AB, Morton CC, Copeland NG, Jenkins NA. Characterization of unconventional MYO6, the human homologue of the gene responsible for deafness in Snell’s waltzer mice. Hum Mol Genet. 1997 Aug;6(8):1225-31. PubMed PMID: 9259267.