Grand Rounds on Genetics and Syndromes (.2 CEUs)
Recorded On: 10/31/2013
Duration: Two hours
Presenters: Kelley Dodson, MD; Amanda Ortmann, PhD; Arti Pandya, MD MBA and Heidi L. Rehm, PhD
Who Should Attend: Audiologists, especially pediatric audiologists, ENTs, other healthcare providers, students, and individuals interested in genetic and syndromic conditions
Instructional Level: Intermediate
Program Focus: Knowledge
Upon completion, each participant in the eAudiology Web seminar will be able to:
- List the benefits and drawbacks of whole genome/exome testing compared to disease-targeting testing.
- Describe how genetic and molecular testing can assist in the identification and management/referral process for the most common genetic causes of hearing loss.
- Explain how genetic testing can predict the onset of syndromic features.
- Identify the genetic basis of hearing loss, describe the most common genetic causes and the associated workup
- List the audiometric configurations that are present with enlarged vestibular aqueducts (EVA)
- List symptoms that are present with Pendred's syndrome
- Define the "3rd window" hypothesis for improvement in bone conduction thresholds in EVA
In the first-ever eAudiology Grand Rounds on genetics and syndrome, four experts will present cases on the most common causes of genetic hearing loss, genetic testing, syndromes and syndromic features, as well as management for these conditions.
Dr. Kelley Dodson will provide familiarity to the "top 10" most common and/or interesting causes of congenital hearing loss. Topics covered will include deafness due to DFNB1 (connexin-26), Pendred syndrome, nonsyndromic mitochondrial deafness,Usher syndrome, Jervell Lange Nielsen syndrome, Waardenburg syndrome, 22q11 deletion syndrome, Treacher Collins syndrome, branchio-oto renal syndrome, among others. The clinical workup of children presenting with congenital hearing loss, the development of differential diagnosis, and important aspects of management of these conditions will be reviewed.
Dr. Amanda Ortmann will focus on a case of an individual with Pendred's Syndrome whose diagnosis went undetected until she was in her thirties. The effect of enlarged vestibular aqueducts on audiometric results as well hypotheses as to why EVA causes such results will be discussed.
Dr. Arti Pandya will translate current advances in the genetics of hearing loss to bedside clinical practice, highlighting the genetic basis of hearing loss and molecular testing, identifying features of syndromic hearing loss, making appropriate referrals, and educating families on rationale for etiologic diagnosis.
Dr. Heidi Rehm will review two cases that highlight different genetic approaches to identify the cause of hearing loss in patients and predict the onset of syndromic features. One case uses whole genome sequencing and another uses targeted next generation sequencing.
Kelley Dodson, MD completed her undergraduate studies at University of Virginia, followed by Medical School at George Washington University. After completing her five year Otolaryngology Residency at Virginia Commonwealth University Medical Center, Dr. Dodson joined the faculty of Department of Otolaryngology at VCU , where she 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, vestibular disorders, tinnitus, and pediatric sinusitis. Dr. Dodson has published scientific reports and articles on pediatric and genetic hearing loss, risk factors associated with unilateral and bilateral hearing loss, and nonsyndromic mitochondrial deafness.
Amanda Ortmann PhD has served as an Audiologist in the Division of Adult Audiology at Washington University School of Medicine as well as a lecturer within the Program in Audiology and Communication Sciences at Washington University. Starting in October 1st, Dr. Ortmann will join University of Southern California, Program in Auditory Neuroscience as a post-doctoral fellow.
Arti Pandya, MD MBA been involved in research on genetic hearing loss for more than two decades, and started her career with research on genetic modifiers for HL in individuals with Waardenburg syndrome. Later, Dr. Pandya identified new recessive and dominant deafness genes, determined the molecular epidemiology of the most common GJB2 deafness and established the largest national repository of DNA from deaf individuals. More recently she has focused on assessing the ethical impact of new discoveries in genetic hearing loss on deaf individuals and their families. Dr. Pandya serves on the advisory committee for the state genetic program as well as the Early Hearing Detection and Intervention services. She was an invited member on a special American College of Medical Genetic work group to help develop national guidelines and recommendations for evaluation of a child with hearing loss identified through NBS and am actively involved in the revision of the most current ACMG guidelines. She is also an invited member of the national newborn screening and translational workgroup assessing practice policies for long tern follow up of infants diagnosed with a genetic disorder by newborn screening, including metabolic conditions and hearing loss.
Heidi L. Rehm, PhD, FACMG is the Director of the Laboratory for Molecular Medicine at the Partners Healthcare Center for Personalized Genetic Medicine and Assistant Professor of Pathology at Harvard Medical School. Her lab focuses on the translation of new genetic discoveries and technologies into clinical tests that can be used to improve patient outcomes, supporting the model of personalized medicine. Dr. Rehm also conducts research in hearing loss, Usher syndrome, genomic medicine, and healthcare IT.