AudiologyNOW! 2014: Everything You Ever Wanted To Know About Genetics and Hearing and Then Some (.3 CEUs; ABA Certificants: Tier 1)
Recorded On: 03/29/2014
Recorded March 29th at AudiologyNOW! 2014
Duration: 3 hours
Presenters: Lisa Schimmenti, MD
Tier 1 Credits available
Who Should Attend: Any audiologists interested in genetics
Program Focus: Knowledge
Upon completion, each participant in the Web seminar will be able to:
1. Identify common genetic types of deafness/hard of hearing and their inheritance patterns
2. Describe key findings in patients with genetic syndromes associated with deafness/hard of hearing
3. Explain why knowing the genetic basis of hearing loss informs medical and audiometric management
More than half of all hearing loss has a genetic basis. Knowing the genetic basis for hearing loss informs audiological and medical management. This eAudiology Web seminar will introduce genetic principles and then dig deep into hearing genetics. Common non-syndromic forms of genetic hearing loss as well as syndromic hearing loss will be discussed. Strategies to anticipate medical problems and deliver precision medicine approaches to hearing loss will be explored. Next generation genetic diagnostics, now being used regularly in our clinics, will be presented. Self-assessment will be facilitated through case examples and interactive questions.
Lisa Schimmenti, MD received her undergraduate degree from Johns Hopkins University in Baltimore, Maryland. She received her medical degree from Albert Einstein College of Medicine in New York. She completed her pediatric residency at Harbor-UCLA Medical Center and her fellowship in Genetics and Metabolism at the University of Minnesota. Providing clinical genetic services for patients and families, Schimmenti's areas of clinical strength include hearing loss genetics, ophthalmic genetics, and developmental disabilities including autism. She also provides expert medical services for children and adults with inborn errors of metabolism and consultation for babies identified to be at risk of inborn errors of metabolism through newborn screening. As an investigator, Schimmenti's research focuses on understanding the genetic basis of neurosensory conditions with an emphasis on childhood blindness, hearing loss and developmental disabilities. She is the Director of the University of Minnesota Zebrafish Core Facility. Her research efforts have been funded by the National Institutes of Health, the March of Dimes and the Minnesota Medical Foundation.