Audiology 2014: Genetics and Hearing Loss

Register Now!Session Descriptions

These pre-recorded lectures are on-demand and last only an hour, so you can listen to them whenever time permits!

The Genetic Epidemiology of Hearing Loss: An Overview

Kathleen S. Arnos, PhD

This session will introduce the range of topics that will be presented in the online conference. It will cover current information regarding epidemiologic characteristics of hereditary hearing loss, including incidence and prevalence of genetic hearing loss, summary of etiologies, inheritance patterns, proportion of syndromic versus nonsyndromic forms, important nomenclature, and progress in gene identification. It will also examine basic pedigree symbols and construction, and address how to use pedigrees as a tool in your own clinical practice.

Learning Outcomes
You will be able to:

  • describe how genetic factors influence hearing loss in infants and school-aged children;
  • explain the difference between syndromic and nonsyndromic hearing loss, and specify the relative proportion of each in genetic hearing loss;
  • identify one monogenic inheritance pattern that is common in genetic forms of congenital and early-onset hearing loss;
  • construct basic pedigrees using appropriate symbols and structures.

The Building Blocks of Gene Expression: DNA to RNA to Protein

Robin Williamson, PhD

This session will expand your understanding of the basic building blocks of genetics—DNA, RNA, and proteins—to help audiologists and other professional understand how organisms grow and function, and also help explain how traits and diseases are inherited.

Learning Outcomes
You will be able to:

  • compare the structure and function of DNA and RNA;
  • differentiate a gene from a sequence of DNA;
  • illustrate how the DNA genetic code is converted into proteins that affect cellular structure and function.

Monogenic Inheritance Patterns and Pedigree Analysis

Kathleen S. Arnos, PhD

This session will discuss monogenic inheritance patterns, which greatly contribute to congenital and early-onset hearing loss. Using information on pedigree construction and cell biology, participants will learn to analyze a variety of family situations in which monogenic inheritance of hearing loss occurs and practice differentiating clues in a pedigree that can indicate the relationship between genotype and phenotype associated with each inheritance pattern. The session will also explore factors that contribute to alteration of Mendelian ratios, including reduced penetrance, consanguinity, and assortative mating.

Learning Outcomes
You will be able to:

  • formulate descriptions to characterize Mendelian inheritance patterns using appropriate vocabulary;
  • categorize examples of human pedigrees by mode of inheritance of a trait (autosomal dominant, autosomal recessive, or X-linked recessive);
  • differentiate between reduced penetrance and variable expressivity, and apply these concepts using examples related to hearing loss;
  • discriminate between Mendelian inheritance and mitochondrial (matrilineal) inheritance by evaluating characteristics of pedigrees.

Progress in Complex Genetics: What Does It Mean for Hearing Loss?

Guy Van Camp, PhD

This session provides an overview of the current available data on the genetic and environmental factors contributing to age-related hearing impairment (ARHI), the most common sensory disability among the elderly. The session also presents the current science and technology related to complex genetics more broadly, and how it might be applied to ARHI in the future.

Learning Outcomes
You will be able to:

  • describe the recent scientific progress in complex genetics;
  • discriminate monogenic and complex forms of hearing impairment;
  • describe how complex forms of hearing impairment have been studied, and these studies' key achievements;
  • discuss the genetic architecture of age-related hearing impairment.

Genetic Testing Strategies for Hearing Loss: Leveraging Next-Generation Sequencing (NGS) Technologies for Improved Detection Rates

Sami Amr, PhD

Using genetic testing to understand the underlying causes of hearing loss can help clinicians, patients, and families understand and manage the hearing impairment. Several genetic testing options exist, and they vary in their clinical sensitivity, accuracy, and cost. This session will examine the landscape of available genetic testing technologies and compare the advantages and limitations of each, with a special focus on the utility and challenges of NGS expanded gene panels. In addition, we will take a detailed look at the process for interpreting and reporting genetic testing results.

Learning Outcomes
You will be able to:

  • identify different molecular diagnostic approaches for hearing loss;
  • evaluate the utility of NGS hearing loss panels;
  • recognize the interpretive and reporting challenges associated with expanded NGS testing.

The Origins of Syndromic Hearing Loss

Arti Pandya, MD, MBA

This session will provide an overview of the more common syndromes associated with hearing loss and focus on what criteria indicate the need for particular types of referrals for additional evaluation. We will discuss the clinical findings in common syndromic forms of hearing loss, their patterns of inheritance, and molecular pathogenesis, including the molecular etiology.

Learning Outcomes
You will be able to:

  • identify clients who have hearing loss as a part of syndrome;
  • explain the inheritance and natural history of the hearing loss to patients and families;
  • determine appropriate referrals for diagnosis and management.

Origins and Clinical Care of Hearing Loss Associated With Enlargement of the Vestibular Aqueduct (EVA)

Andrew J. Griffith, MD, PhD

Enlargement of the vestibular aqueduct (EVA) is an enigmatic and unpredictable disorder primarily affecting children during their critical years of speech and language acquisition. The disorder can present challenges for communication rehabilitation as well as anxiety for patients and families. This session will present the clinical and scientific aspects of hearing loss associated with EVA to allow participants to provide comprehensive, cutting-edge information to their patients with EVA and their families to improve clinical care for the patients.

Learning Outcomes
You will be able to:

  • describe current concepts about the etiology and pathogenesis of EVA;
  • describe the causes, associated syndromes, and appropriate diagnostic testing for patients with EVA;
  • explain hearing loss prevention, prognosis, treatment options, and etiology to EVA patients and families.

Genetic Associations With Vestibular Disorders and Unilateral Hearing Loss

Kelley M. Dodson, MD

This session will present current evidence underlying the genetic basis for certain types of unilateral and vestibular disorders. We will discuss the risk factors associated with congenital unilateral hearing loss and the importance of knowing a patient's family history. Participants will gain an understanding of vestibular disorders with a genetic component and how these relate to inner ear structure and function. The session will also explore the potential of progressive hearing loss in the normal hearing ear in the context of certain genetic conditions.

Learning Outcomes
You will be able to:

  • describe the risk factors for congenital and later-onset unilateral hearing loss and the evidence behind a genetic predisposition for this condition;
  • identify the genetic factors that may underlie certain vestibular disorders and their clinical significance;
  • recognize when to refer patients with unilateral hearing loss or vestibular disorders for a genetic evaluation.

Multi-Organ Systems and Hearing Loss: Embryology of the Ear and Related Organ Systems

Kelley M. Dodson, MD

This session will describe the embryology of the external, middle, and internal ear, with emphasis on relevance to clinical features of congenital and progressive forms of hearing impairment. We will explore how the embryologic development of the ear is related to the development of other organ systems to give the participant an understanding of how related organ systems play a part in certain hearing loss syndromes.

Learning Outcomes
You will be able to:

  • describe the normal embryologic development of the external, middle, and inner ear;
  • explain how disturbances of embryologic development relate to clinical manifestations of certain forms of congenital and progressive-onset hearing loss;
  • recognize multi-organ system involvement in syndromes associated with hearing loss.

Different Approaches to Evaluating Individuals With Hearing Loss

Arti Pandya, MD, MBA

This session will explore the different ways in which hearing loss presents across families, how to identify a mode of inheritance based on family history, and an approach to investigations, including testing for a molecular etiology. It will generate discussion on the pros and cons of use for current molecular panels and how families perceive and use this information.

Learning Outcomes
You will be able to:

  • distinguish among clients who have hearing loss that is genetic, syndromic, or nonsyndromic;
  • explain the inheritance and natural history of different types of hearing loss;
  • determine appropriate tests to be offered to patients based on type of hearing loss;
  • provide resources and referrals for counseling of future recurrence risk.

Hearing Loss Due to Connexin 26 (GJB2) Mutations: Horses, Not Zebras

Margaret Kenna, MD

Sensorineural hearing loss (SNHL) is the most common congenital sensory impairment. At least 50% of congenital SNHL is genetic; 75% of the genetic causes are nonsyndromic, 75% of the nonsyndromic causes are recessive, and up to 50% of recessive, nonsyndromic SNHL is due to mutations in the Connexin 26 (GJB2) gene. This session will explain how hearing loss due to Connexin 26 mutations fits into the overall diagnosis of congenital and childhood-onset SNHL, as well as the audiologic presentation and prognosis of Connexin 26-related hearing loss. The session will also review the molecular biology of Connexins as well as discuss cochlear implant outcomes in patients with Connexin 26-related hearing loss.

Learning Outcomes
You will be able to:

  • explain the basis for making a diagnosis of Connexin 26-associated hearing loss;
  • describe the prognosis for Connexin 26-related hearing loss;
  • identify the inheritance patterns of Connexin 26-related SNHL.

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