Information

Related Research Units

Otolaryngology Research

Research Overview

The overriding purpose of my research is to translate discoveries from the study of the molecular genetics of the human auditory system into improved clinical outcomes for children with hearing loss

Short-term Research Goals:

  • To improve cochlear implant outcomes by examining the interplay between the genetics of deafness and cochlear implant outcomes with particular focus on the health of the spiral ganglion
  • To identify novel genes associated with genetic hearing loss by studying gene expression at the single-cell level in the spiral ganglion
  • To advance genetic diagnosis for hearing loss through the use of new DNA sequencing techniques

Long-term Research Goals:

  • To gain a better understanding of the molecular physiology of the human auditory system by discovering human deafness genes using exome and genome sequencing techniques
  • To optimize newborn hearing screening by incorporating physiologic (OAE/ABR), genetic, and CMV screening
  • To translate basic science discoveries into clinical trials using molecular therapies for hearing loss

Research Background

Dr. Shearer completed his M.D., Ph.D., and residency in Otolaryngology--Head & Neck Surgery at the University of Iowa Hospitals & Clinics. He then completed a fellowship in Pediatric Otolaryngology at Boston Children's Hospital where he was recruited to stay on as faculty with an appointment at Harvard Medical School.

Dr. Shearer has training in both the wet-bench as well as bioinformatics (computational) aspects of human genetics and genomics. This has allowed him to successfully approach difficult research questions in genetic hearing loss from both a molecular biology and a large-scale computational perspective. He has published internationally-recognized research primarily in discoveries related to human genetic deafness. His PhD thesis work focused on developing and validating a novel method for genetic testing for deafness (OtoSCOPE(R)). This test is now used on a clinical basis for hundreds of patients a year and has become the new standard of care for evaluation of children with hearing loss.

Dr. Shearer has significant experience with massively parallel sequencing, which is the basis for exome and genome sequencing. He has used these tools to discover human deafness genes and to uncover insights that have changed our understanding of the genetics of human deafness. Most recently, his research focus has expanded to include methods to improve the newborn hearing screen using these new genetic sequencing methods. He has also worked to uncover the complex relationship between genetic diagnosis and cochlear implant outcomes.

 

Education

Undergraduate School

Ohio University Honors Tutorial College
2007 Athens OH

Graduate School

University of Iowa College of Medicine
2014 Iowa City IA

Medical School

University of Iowa College of Medicine
2014 Iowa City IA

Internship

University of Iowa Hospitals & Clinics
2015 Iowa City IA

Residency

University of Iowa Hospitals & Clinics
2019 Iowa City IA

Fellowship

Boston Children's Hospital
2020 Boston MA

Media

Parentcast Podcast

Dr. A. Eliot Shearer is featured: What do I do about my child’s ear infection?

Publications

  1. Correction: A proposal for comprehensive newborn hearing screening to improve identification of deaf and hard-of-hearing children. Genet Med. 2019 12; 21(12):2845-2846. View Abstract
  2. Massive Scalp Cylindromas Treated With Staged Resection and Split-Thickness Skin Grafting. JAMA Otolaryngol Head Neck Surg. 2019 Aug 01; 145(8):766-767. View Abstract
  3. Auditory synaptopathy, auditory neuropathy, and cochlear implantation. Laryngoscope Investig Otolaryngol. 2019 Aug; 4(4):429-440. View Abstract
  4. A proposal for comprehensive newborn hearing screening to improve identification of deaf and hard-of-hearing children. Genet Med. 2019 11; 21(11):2614-2630. View Abstract
  5. Adult type rhabdomyoma presenting as a parathyroid adenoma. Head Neck. 2019 02; 41(2):E30-E33. View Abstract
  6. In Vivo Electrocochleography in Hybrid Cochlear Implant Users Implicates TMPRSS3 in Spiral Ganglion Function. Sci Rep. 2018 09 21; 8(1):14165. View Abstract
  7. Genomic Landscape and Mutational Signatures of Deafness-Associated Genes. Am J Hum Genet. 2018 10 04; 103(4):484-497. View Abstract
  8. Comprehensive Genetic Testing for Deafness from Fresh and Archived Dried Blood Spots. Otolaryngol Head Neck Surg. 2018 12; 159(6):1058-1060. View Abstract
  9. Genetic variants in the peripheral auditory system significantly affect adult cochlear implant performance. Hear Res. 2017 05; 348:138-142. View Abstract
  10. Detection and Confirmation of Deafness-Causing Copy Number Variations in the STRC Gene by Massively Parallel Sequencing and Comparative Genomic Hybridization. Ann Otol Rhinol Laryngol. 2016 Nov; 125(11):918-923. View Abstract
  11. Comprehensive genetic testing in the clinical evaluation of 1119 patients with hearing loss. Hum Genet. 2016 Apr; 135(4):441-450. View Abstract
  12. Audioprofile Surfaces: The 21st Century Audiogram. Ann Otol Rhinol Laryngol. 2016 May; 125(5):361-8. View Abstract
  13. Use of the Teres Major Muscle in Chimeric Subscapular System Free Flaps for Head and Neck Reconstruction. JAMA Otolaryngol Head Neck Surg. 2015 Sep; 141(9):816-21. View Abstract
  14. Sensorineural Hearing Loss: A Changing Paradigm for Its Evaluation. Otolaryngol Head Neck Surg. 2015 Nov; 153(5):843-850. View Abstract
  15. PRIMA1 mutation: a new cause of nocturnal frontal lobe epilepsy. Ann Clin Transl Neurol. 2015 Aug; 2(8):821-30. View Abstract
  16. Massively Parallel Sequencing for Genetic Diagnosis of Hearing Loss: The New Standard of Care. Otolaryngol Head Neck Surg. 2015 Aug; 153(2):175-82. View Abstract
  17. Mutation of the nuclear lamin gene LMNB2 in progressive myoclonus epilepsy with early ataxia. Hum Mol Genet. 2015 Aug 15; 24(16):4483-90. View Abstract
  18. HOMER2, a stereociliary scaffolding protein, is essential for normal hearing in humans and mice. PLoS Genet. 2015 Mar; 11(3):e1005137. View Abstract
  19. De novo mutation in X-linked hearing loss-associated POU3F4 in a sporadic case of congenital hearing loss. Ann Otol Rhinol Laryngol. 2015 May; 124 Suppl 1:169S-76S. View Abstract
  20. Hearing loss caused by a P2RX2 mutation identified in a MELAS family with a coexisting mitochondrial 3243AG mutation. Ann Otol Rhinol Laryngol. 2015 May; 124 Suppl 1:177S-83S. View Abstract
  21. Novel PTPRQ mutations identified in three congenital hearing loss patients with various types of hearing loss. Ann Otol Rhinol Laryngol. 2015 May; 124 Suppl 1:184S-92S. View Abstract
  22. USH2 caused by GPR98 mutation diagnosed by massively parallel sequencing in advance of the occurrence of visual symptoms. Ann Otol Rhinol Laryngol. 2015 May; 124 Suppl 1:123S-8S. View Abstract
  23. Challenges and solutions for gene identification in the presence of familial locus heterogeneity. Eur J Hum Genet. 2015 Sep; 23(9):1207-15. View Abstract
  24. Utilizing ethnic-specific differences in minor allele frequency to recategorize reported pathogenic deafness variants. Am J Hum Genet. 2014 Oct 02; 95(4):445-53. View Abstract
  25. Cordova: web-based management of genetic variation data. Bioinformatics. 2014 Dec 01; 30(23):3438-9. View Abstract
  26. Copy number variants are a common cause of non-syndromic hearing loss. Genome Med. 2014; 6(5):37. View Abstract
  27. TBC1D24 mutation causes autosomal-dominant nonsyndromic hearing loss. Hum Mutat. 2014 Jul; 35(7):819-23. View Abstract
  28. An international effort towards developing standards for best practices in analysis, interpretation and reporting of clinical genome sequencing results in the CLARITY Challenge. Genome Biol. 2014 Mar 25; 15(3):R53. View Abstract
  29. Advancing genetic testing for deafness with genomic technology. J Med Genet. 2013 Sep; 50(9):627-34. View Abstract
  30. AudioGene: predicting hearing loss genotypes from phenotypes to guide genetic screening. Hum Mutat. 2013 Apr; 34(4):539-45. View Abstract
  31. Genetics: advances in genetic testing for deafness. Curr Opin Pediatr. 2012 Dec; 24(6):679-86. View Abstract
  32. Pre-capture multiplexing improves efficiency and cost-effectiveness of targeted genomic enrichment. BMC Genomics. 2012 Nov 14; 13:618. View Abstract
  33. Prediction of cochlear implant performance by genetic mutation: the spiral ganglion hypothesis. Hear Res. 2012 Oct; 292(1-2):51-8. View Abstract
  34. Using the phenome and genome to improve genetic diagnosis for deafness. Otolaryngol Head Neck Surg. 2012 Nov; 147(5):975-7. View Abstract
  35. Screening for MYO15A gene mutations in autosomal recessive nonsyndromic, GJB2 negative Iranian deaf population. Am J Med Genet A. 2012 Aug; 158A(8):1857-64. View Abstract
  36. Solution-based targeted genomic enrichment for precious DNA samples. BMC Biotechnol. 2012 May 04; 12:20. View Abstract
  37. Deafness in the genomics era. Hear Res. 2011 Dec; 282(1-2):1-9. View Abstract
  38. Reducing the exome search space for mendelian diseases using genetic linkage analysis of exome genotypes. Genome Biol. 2011 Sep 14; 12(9):R85. View Abstract
  39. DFNA8/12 caused by TECTA mutations is the most identified subtype of nonsyndromic autosomal dominant hearing loss. Hum Mutat. 2011 Jul; 32(7):825-34. View Abstract
  40. Carcinoembryonic antigen-related cell adhesion molecule 16 interacts with alpha-tectorin and is mutated in autosomal dominant hearing loss (DFNA4). Proc Natl Acad Sci U S A. 2011 Mar 08; 108(10):4218-23. View Abstract
  41. Loss-of-function mutations of ILDR1 cause autosomal-recessive hearing impairment DFNB42. Am J Hum Genet. 2011 Feb 11; 88(2):127-37. View Abstract
  42. Mutations in TMC1 are a common cause of DFNB7/11 hearing loss in the Iranian population. Ann Otol Rhinol Laryngol. 2010 Dec; 119(12):830-5. View Abstract
  43. A novel mutation in COCH-implications for genotype-phenotype correlations in DFNA9 hearing loss. Laryngoscope. 2010 Dec; 120(12):2489-93. View Abstract
  44. Comprehensive genetic testing for hereditary hearing loss using massively parallel sequencing. Proc Natl Acad Sci U S A. 2010 Dec 07; 107(49):21104-9. View Abstract
  45. Frequency of Usher syndrome in two pediatric populations: Implications for genetic screening of deaf and hard of hearing children. Genet Med. 2010 Aug; 12(8):512-6. View Abstract
  46. Mutations in the first MyTH4 domain of MYO15A are a common cause of DFNB3 hearing loss. Laryngoscope. 2009 Apr; 119(4):727-33. View Abstract
  47. A novel splice site mutation in the RDX gene causes DFNB24 hearing loss in an Iranian family. Am J Med Genet A. 2009 Mar; 149A(3):555-8. View Abstract

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Phone: 617-355-6462
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