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Home Courses Course Overview

Genetics and Hearing Loss: Genetics and Auditory Function in Children

aud Advanced
10hr 14min
Live Online

Registration is not available at this time.

Continuing Education

  • 1.00 ASHA CEUs
  • 1.00 AAA CEUs
  • 10.00 AG Bell CEUs

Register until Feb. 11, 2024

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  • Course Outline

Course Overview

This course delves into the genetic basis of hearing loss with a particular focus on pediatric populations. It provides an exhaustive overview of syndromic and non-syndromic hearing loss. It further explores the complexities surrounding the genomic and mutational landscapes of auditory dysfunction and emphasizes the importance of precise genetic variant interpretation. It discusses the frontiers of genetic intervention in hearing disorders covering aspects of precision medicine, genetic counseling, and emerging genetic therapies and their direct impacts on hearing loss management. The course aims to equip audiologists and other healthcare providers with the requisite knowledge to integrate genetic insights into clinical practice, ensuring a multidisciplinary approach to hearing loss assessment and intervention in children. 

Live Sessions

Mondays Feb 12, 26, Mar 4, 11, 18 at 8-9pm ET

Primary Audience

Audiology and LSL Professionals

Key Outcomes

  • Describe different types of genetic hearing loss and their prevalence.
  • Differentiate between syndromic and non-syndromic hearing loss for accurate diagnosis and appropriate interventions.
  • Recognize ethnic-specific genetic and mutational spectrums and diagnostic rates.
  • Interpret the significance of genotype-phenotype correlations for accurate diagnosis.
  • Describe variant classifications and explain their implications for clinical care.
  • Apply hearing loss-specific ACMG guidelines.
  • Read and interpret genetic testing reports.
  • Appreciate the critical role of multidisciplinary teams in clinical care.
  • Assess the role of precision medicine in enhancing audiological care.
  • Describe diverse therapies for managing hearing disorders in children.

Course Outline

  • Genetics of Hearing Loss: An Overview

    2h

    [embed:36efd594-647a-47a1-9350-90a1e89aac01:7a9295bf-12da-4d35-95be-dd389fb5762d:title=Learning%20Content&duration=3600&itemdetails=%3Cul%3E%0A%3Cli%3ESyndromic%20and%20Non-syndromic%20Hereditary%20Hearing%20Loss%20in%20Children%20%7C%26nbsp%3B15m%0A%3Cul%3E%0A%3Cli%3ECommon%20syndromes%3C%2Fli%3E%0A%3Cli%3ENon-syndromic%20mimics%3C%2Fli%3E%0A%3C%2Ful%3E%0A%3C%2Fli%3E%0A%3Cli%3EAutosomal%20Recessive%20Hearing%20Loss%20%7C%2010m%3C%2Fli%3E%0A%3Cli%3EAutosomal%20Dominant%20Hearing%20Loss%20%7C%2010m%3C%2Fli%3E%0A%3Cli%3EX-Linked%20and%20Mitochondrial%20%7C%205m%3C%2Fli%3E%0A%3Cli%3EDiagnostic%20rate%3A%20Gene%20contributions%20to%20HL%20%7C%2010m%3C%2Fli%3E%0A%3Cli%3EClinical%20Implications%20for%20Assessment%20and%20Intervention%20%7C%2010m%3C%2Fli%3E%0A%3C%2Ful%3E]

    [embed:36efd594-647a-47a1-9350-90a1e89aac01:881b8ca2-7bc7-4de3-b2b5-b7a76332cd73:title=Live%20Session&duration=3600&itemdetails=]

    Learning Content

    1h
    • Syndromic and Non-syndromic Hereditary Hearing Loss in Children | 15m
      • Common syndromes
      • Non-syndromic mimics
    • Autosomal Recessive Hearing Loss | 10m
    • Autosomal Dominant Hearing Loss | 10m
    • X-Linked and Mitochondrial | 5m
    • Diagnostic rate: Gene contributions to HL | 10m
    • Clinical Implications for Assessment and Intervention | 10m

    Live Session

    1h

  • Genetics of Hearing Loss: Complexities

    2h

    [embed:36efd594-647a-47a1-9350-90a1e89aac01:ab7852b1-3822-4dbc-b504-a988469ba3f5:title=Learning%20Content&duration=3600&itemdetails=%3Cul%3E%0A%3Cli%3EGenomic%20and%20mutational%20landscapes%20of%20hearing%20loss%20%7C%2015m%3C%2Fli%3E%0A%3Cli%3EEthnic-specific%20genetic%20and%20mutational%20spectrums%20%7C%205m%3C%2Fli%3E%0A%3Cli%3EGenotype-phenotype%20correlation%20%7C%2015m%3C%2Fli%3E%0A%3Cli%3ENatural%20histories%20%7C%2015m%3C%2Fli%3E%0A%3Cli%3EClinical%20Implications%20for%20Assessment%20and%20Intervention%20%7C%2010m%3C%2Fli%3E%0A%3C%2Ful%3E]

    [embed:36efd594-647a-47a1-9350-90a1e89aac01:013bf7ba-5e36-40a5-b7a0-ee359ec138ea:title=Live%20Session&duration=3600&itemdetails=]

    Learning Content

    1h
    • Genomic and mutational landscapes of hearing loss | 15m
    • Ethnic-specific genetic and mutational spectrums | 5m
    • Genotype-phenotype correlation | 15m
    • Natural histories | 15m
    • Clinical Implications for Assessment and Intervention | 10m

    Live Session

    1h

  • Genetic Variant Interpretation

    2h

    [embed:36efd594-647a-47a1-9350-90a1e89aac01:98e8ecc7-7e52-4268-9cfa-ac9183a3191f:title=Learning%20Content&duration=3600&itemdetails=%3Cul%3E%0A%3Cli%3EClinGen%3A%20Gene-disease%20validity%20%7C10m%3C%2Fli%3E%0A%3Cli%3EDeafness-specific%20ACMG%20guidelines%20for%20variant%20classification%20%7C%2035m%3C%2Fli%3E%0A%3Cli%3EHGVS%20nomenclature%20%7C%205m%3C%2Fli%3E%0A%3Cli%3ECase%20studies%20%7C%2010m%3C%2Fli%3E%0A%3C%2Ful%3E]

    [embed:36efd594-647a-47a1-9350-90a1e89aac01:528943b6-26ce-4f2f-8188-a3c5eb64520d:title=Live%20Session&duration=3600&itemdetails=]

    Learning Content

    1h
    • ClinGen: Gene-disease validity |10m
    • Deafness-specific ACMG guidelines for variant classification | 35m
    • HGVS nomenclature | 5m
    • Case studies | 10m

    Live Session

    1h

  • Interpreting Genetic Testing Reports for Children with Hearing Disorders

    2h

    [embed:36efd594-647a-47a1-9350-90a1e89aac01:703a3741-3fec-41c9-98b0-a615d8e25ce4:title=Learning%20Content&duration=3600&itemdetails=%3Cul%3E%0A%3Cli%3EMaking%20Sense%20of%20Genetic%20Testing%20Reports%20%7C%2015m%3C%2Fli%3E%0A%3Cli%3EImportance%20of%20multidisciplinary%20team%26nbsp%3B%20%7C%2010m%3C%2Fli%3E%0A%3Cli%3EImplications%20for%20Clinical%20Care%20%7C%2020m%3C%2Fli%3E%0A%3Cli%3ECase%20studies%20%7C%2015m%3C%2Fli%3E%0A%3C%2Ful%3E]

    [embed:36efd594-647a-47a1-9350-90a1e89aac01:792d734e-9b36-4348-b077-315863cf5d17:title=Live%20Session&duration=3600&itemdetails=]

    Learning Content

    1h
    • Making Sense of Genetic Testing Reports | 15m
    • Importance of multidisciplinary team  | 10m
    • Implications for Clinical Care | 20m
    • Case studies | 15m

    Live Session

    1h

  • Intervention for Genetic Hearing Disorders in Children

    2h

    [embed:36efd594-647a-47a1-9350-90a1e89aac01:75cc04e8-0a54-4bf3-8dab-dcd7b506831a:title=Learning%20Content&duration=3600&itemdetails=%3Cul%3E%0A%3Cli%3EPrecision%20Medicine%20for%20HL%20%7C%2010m%3C%2Fli%3E%0A%3Cli%3EGenetic%20Counseling%20for%20Hearing%20Disorders%20in%20Children%20%7C%2010m%3C%2Fli%3E%0A%3Cli%3EGenetic%20Therapies%20for%20Hearing%20Disorders%20in%20Children%20%7C%2020m%0A%3Cul%3E%0A%3Cli%3EDifferent%20strategies%3C%2Fli%3E%0A%3Cli%3EOngoing%20clinical%20trials%3C%2Fli%3E%0A%3C%2Ful%3E%0A%3C%2Fli%3E%0A%3Cli%3EFuture%20%7C%2020m%0A%3Cul%3E%0A%3Cli%3EMultiomics%20approaches%3C%2Fli%3E%0A%3Cli%3EComprehensive%20NBHS%3A%20concurrent%20Genetic%20and%20physiological%20screening-%20Genetic%20Screening%20and%20Assessment%20for%20Hearing%20Disorders%20in%20Children%3C%2Fli%3E%0A%3C%2Ful%3E%0A%3C%2Fli%3E%0A%3C%2Ful%3E]

    [embed:36efd594-647a-47a1-9350-90a1e89aac01:77afa2a1-c190-4906-9ad3-ac25a7382f6a:title=Live%20Session&duration=3600&itemdetails=]

    Learning Content

    1h
    • Precision Medicine for HL | 10m
    • Genetic Counseling for Hearing Disorders in Children | 10m
    • Genetic Therapies for Hearing Disorders in Children | 20m
      • Different strategies
      • Ongoing clinical trials
    • Future | 20m
      • Multiomics approaches
      • Comprehensive NBHS: concurrent Genetic and physiological screening- Genetic Screening and Assessment for Hearing Disorders in Children

    Live Session

    1h

Featuring

  • Hela  Azaiez Headshot

    Hela Azaiez
    PhD

    View Profile

    Dr. Azaiez is an expert in human molecular genetics and genomics, with a specialized focus on the genetic underpinnings of hearing loss. Her research program combines advanced genomic technologies, computational tools, and functional studies using animal models to investigate the complex genetic architecture of auditory dysfunction. A central goal of her work is to bridge discovery and clinical care through translational research, thereby enhancing genetic diagnosis and implementing precision medicine approaches in hearing health. During her tenure at the University of Iowa’s Department of Otolaryngology—Head and Neck Surgery, Dr. Azaiez led the Hearing Loss Team at the Molecular Otolaryngology and Renal Research Laboratories (MORL) and directed an independent research group dedicated to uncovering the genetic drivers and molecular mechanisms of hearing loss. Her team spearheaded the development of the Deafness Variation Database (DVD), a first-of-its-kind global resource cataloging genes and variants associated with hearing loss. Now used by over 3,000 clinicians and researchers worldwide, the DVD has become an essential tool for genetic testing and informed clinical decision-making. Dr. Azaiez holds leadership roles in international collaborative efforts, including the ClinGen Hearing Loss Gene and Variant Expert Panels and the Lancet Commission on Hearing Loss, contributing to the development of globally recognized standards for variant classification and diagnostics. In her current role at Indiana University, she is committed to advancing genomic discovery, fostering interdisciplinary collaboration, and mentoring the next generation of scientists and clinicians in the field of auditory genetics.

    Financial Disclosures: Dr. Azaiez receives compensation from Indiana University School of Medicine as Assistant Professor. She also receives compensation from Hearing First to teach this course.

    Non-financial Disclosures: Dr. Azaiez is an Associate Editor for Frontiers in Audiology and Otology, Academic Editor for PLOS ONE, and on the Editorial board for Otology and Neurotology. She is a Member of the Membership Engagement Committee at the American Society of Human Genetics. She is Chair of Hearing Loss Gene Curation Expert Panel, serves on the Hearing Loss Clinical Domain Working Group and the Alport Syndrome Variant Curation Expert Panel with Clinical Genome Resource (ClinGen).

  • Kevin  Booth Headshot

    Kevin Booth
    PhD

    View Profile

    Dr. Kevin TA Booth is currently a Laboratory Genetics and Genomics Fellow in the Department of Medical and Molecular Genetics at Indiana University School of Medicine. He received a B.A. in Chemistry and a Ph.D. in Molecular Medicine from the University of Iowa. His doctoral research focused on unraveling the genetic complexities of hereditary hearing loss. Dr. Booth then pursued a post-doctoral fellowship at the Neurobiology department at Harvard Medical School working on developing novel approaches for gene therapy for hearing loss. Dr. Booth’s current work centers around improving our understanding of inherited disease through genetics and translating these insights into clinical applications.

    Financial Disclosures: Dr. Booth receives compensation from Indiana University School of Medicine as Laboratory Genetics and Genomics Fellow. He also receives compensation from Hearing First to teach this course.

    Non-financial Disclosures: Dr. Booth is on the Editorial Board for Human Genetics, Frontiers in Genetics, International Journal of Molecular Sciences as well as Senior Editor for Annals of Human Genetics. He is also a member and serves on committees for of Association for Research in Otolaryngology, and The American Society of Human Genetics. He is a member of the ClinGen Hearing Loss Gene and variant curation expert panels and the Hearing Loss Clinical Domain Working Group.

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Find Your Way: Next Steps for Parents of Children with Hearing Loss

This helpful guide shows the proven path to listening and talking after a child has been identified as having a hearing loss. Download to share with families who are just getting started on journey!

Get Your Copy

The Hearing First learning experiences are designed to foster the understanding and application of the science and art of audiology and LSL practice. The opinions and comments of facilitators and learners in these learning experiences are theirs and not necessarily the viewpoints shared by Hearing First. As a reminder, Hearing First Learning Experiences are governed by and subject to the Hearing First Terms of Use, Privacy Policy, and Community Code of Conduct, and we encourage all Community Members participating in a Hearing First Learning Experience to review our policies regularly. Hearing First provides free learning experiences to its community members, offering links to open-access resources (handouts, articles, videos) for educational purposes. While we've exercised our right to access and share these resources for charitable and educational use, we make no representations or assume liability regarding your rights. Please familiarize yourself with the publisher's copyright notices, restrictions, and requirements, and note that republishing is solely at your discretion. [ Read More ]

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