American Speech-Language-Hearing Association

Audiology 2014: Genetics and Hearing Loss

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Sami Amr, PhD, is an American Board of Medical Genetics (ABMG)-certified clinical molecular geneticist and director of the Translational Genomics Core at the Partners Healthcare Center for Personalized Genetic Medicine. He works with basic and translational researchers across Partners Healthcare to identify DNA, RNA, and methylation markers and signatures of disease that can help deconvolute underlying mechanisms of pathogenesis. Amr is also an assistant director at Partners Healthcare's Laboratory for Molecular Microbiology. He is involved in development, validation, and reporting of clinical genetic tests across a variety of disease areas, with a focus on hearing loss. Amr's background in nucleic acid testing for the purpose of identifying molecular markers and development of diagnostic assays stems from experiences during his ABMG fellowship in clinical molecular genetics at Harvard Medical School, where he devoted his energy to enhancing clinical platforms for increased analytical sensitivity and to the implementation of new technologies for improved clinical testing performance.

Financial Disclosures:

  • Speaker is an instructor of pathology at Harvard Medical School and Brigham and Women's Hospital, director of Translational Genomics Core and assistant director of Laboratory for Molecular Medicine at Partners Center for Personalized Genetic Medicine
  • Received financial compensation from ASHA for this presentation

Nonfinancial Disclosures:

  • None

Kathleen S. Arnos, PhD, is the director of the genetics program, a professor of biology, and chair of the Department of Science, Technology, & Mathematics at Gallaudet University in Washington, DC. She obtained her PhD in human genetics from the Medical College of Virginia and is certified as a medical geneticist by the American Board of Medical Genetics. In 1984 Arnos established the genetics program at Gallaudet University and over the past 30 years has been an investigator for several research grants to identify genes for deafness. She has published widely on the clinical and molecular aspects of various forms of hereditary hearing loss and ethical considerations of genetic testing for hearing loss. Arnos has provided numerous educational programs for audiologists, physicians, educators, and other professionals.

Financial Disclosures:

  • Speaker is a professor at Gallaudet University
  • Received financial compensation from ASHA for this presentation

Nonfinancial Disclosures:

  • None

Kelley M. Dodson, MD, completed her undergraduate studies at the University of Virginia and went to medical school at George Washington University. After completing her five-year otolaryngology residency at Virginia Commonwealth University Medical Center, Dodson joined the faculty of the department of otolaryngology at VCU, where she is currently an associate professor of otolaryngology/head and neck surgery and residency program director. Her clinical and research interests include pediatric otolaryngology, congenital and hereditary hearing loss, unilateral hearing loss, vestibular disorders, tinnitus, and pediatric sinusitis. Dodson has published numerous scientific reports and articles on pediatric and genetic hearing loss, risk factors associated with unilateral and bilateral hearing loss, and nonsyndromic mitochondrial deafness.

Financial Disclosures:

  • Speaker is an associate professor and residency program director at Virginia Commonwealth University Medical Center
  • Received financial compensation from ASHA for this presentation

Nonfinancial Disclosures:

  • None

Andrew J. Griffith, MD, PhD, is the director of the Division of Intramural Research at NIH's National Institute on Deafness and Other Communication Disorders. Griffith received his BS in chemistry from the University of California, Davis, and his MD and PhD in molecular biophysics and biochemistry from Yale University. He completed an otolaryngology-head and neck surgery residency at the University of Michigan. He has been a member of the Senior Medical Staff of the NIH Clinical Center since 1998, an independent investigator since 2000, and director of the Division of Intramural Research since 2009. His research interest is genetic disorders affecting hearing and balance. His laboratory currently focuses on three projects: (1) the function of the TMC1 (and TMC2) gene(s), in which mutations cause DFNA36 hearing loss; (2) hearing loss associated with EVA; and (3) autosomal dominant nonsyndromic hearing loss DFNA34.

Financial Disclosures:

  • Speaker is the Director of the Division of Intramural Research at the National Institute on Deafness and Other Communication Disorders, National Institutes of Health
  • Received financial compensation from ASHA for this presentation.

Nonfinancial Disclosures:

  • None

Margaret Kenna, MD, received her BS from the University of Pennsylvania and her MD from Boston University School of Medicine. She completed a residency in otolaryngology-head and neck surgery at the University of Arkansas and a pediatric otolaryngology fellowship at the Children's Hospital of Pittsburgh. She also obtained an MPH at the Harvard School of Public Health in 2005. Kenna joined the pediatric otolaryngology faculty at Boston Children's Hospital in 1995. She was the director of the pediatric cochlear implant program from 1995–2003 and has been director of clinical research in the department since 2003. Her early research focused on otitis media, and over the past 20 years she has concentrated on congenital and childhood-onset hearing loss. She is a member of the American Society of Pediatric Otolaryngology; American Academy of Otolaryngology-Head and Neck Surgery; American Academy of Pediatrics; Society for Ear, Nose and Throat Advances in Children; and Massachusetts Department of Public Health Advisory Committee on Newborn Hearing.

Financial Disclosures:

  • Speaker is the director of clinical research at Boston Children's Hospital
  • Received financial compensation from ASHA for this presentation

Nonfinancial Disclosures:

  • Speaker is a member of the board of The Decibels Foundation
  • Member of the board of The Coalition for Usher Syndrome Research
  • Serves on a volunteer review panel for the FDA

Arti Pandya, MD, MBA, has been a practicing pediatric geneticist since 1990, involved in the diagnosis and management of children and adults presenting with dysmorphic features, birth defects and craniofacial malformations, cognitive delay, metabolic disorders, cancer syndromes, connective tissue disorders, and neurodegenerative conditions. She is an associate professor of human and molecular genetics at Virginia Commonwealth University School of Medicine. She is also the medical co-director of a molecular diagnostic laboratory housed in pathology, program director for an accredited molecular genetic training fellowship, and program director for a medical genetics training program. Pandya has been involved in research on genetic hearing loss for more than a decade and has worked on the identification of new recessive and dominant deafness genes, determining the molecular epidemiology of the most common GJB2 deafness and establishing the largest national repository of DNA from deaf individuals. More recently she has focused on assessing the societal and ethical impact of new discoveries in genetic hearing loss on deaf individuals and their families.

Financial Disclosures:

  • Speaker is an associate Professor at Virginia Commonwealth University School of Medicine
  • Received financial compensation from ASHA for this presentation

Nonfinancial Disclosures:

  • None

Guy Van Camp, PhD, is a professor at the University of Antwerp, where he also received his doctorate. Currently, Van Camp's main research interest is sensory genetics, with an emphasis on nonsyndromic sensorineural hearing impairment and otosclerosis. His laboratory was able to localize a large number of deafness genes for monogenic forms and identify several of them. He also works on research on age-related and noise-induced hearing impairment. 

Financial Disclosures:

  • Speaker is a professor at the University of Antwerp
  • Received financial compensation from ASHA for this presentation

Nonfinancial Disclosures:

  • None

Robin Williamson, PhD, graduated from the University of Rochester in 1998 with a major in biochemistry and minors in chemistry and American Sign Language. Williamson then went to graduate school at Harvard University, where her thesis work focused on identifying genes involved in hearing. After completing her PhD in genetics in 2005, Williamson served as the deputy editor of The American Journal of Human Genetics until 2011. She then moved to Rockville, MD, where she now works as a lead associate for the consulting firm Booz Allen Hamilton. At the firm, she supports military health research clients by providing analyses or research portfolios, writing literature reviews and state-of-the-field assessments, and facilitating the development of strategic and management plans. In addition to providing scientific expertise, Williamson received her project management professional (PMP) certification in July 2013 and currently manages a team of 12 people.

Financial Disclosures:

  • Speaker is a lead associate at Booz Allen Hamilton
  • Received financial compensation from ASHA for this presentation

Nonfinancial Disclosures:

  • None

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