Southeast Regional Consortium and AUCD Presents! Genetic Factors Contributing to Disability
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2:00 PM EST - 3:00 PM EST
This webinar began with a brief overview of the recent history of genetic and genomic medicine, with special emphasis on the rapid pace with which discoveries have been made in this burgeoning field. An area that has experienced considerable progress is the breadth of genetic testing that is available for individuals with developmental disabilities. A significant portion of the webinar was devoted to a discussion of the most common genetic tests that can be utilized in the evaluation of individuals with developmental disabilities. The discussion included the indications, benefits and limitations, and process for interpreting clinical genetic tests. Selected common genetic conditions was reviewed briefly.
Dr. Tyler Reimschisel is Assistant Professor of Pediatrics and Neurology and Director of the Division of Developmental Medicine and the Center for Child Development in the Department of Pediatrics at Vanderbilt University School of Medicine. He is the Associate Director of the Vanderbilt LEND at the Vanderbilt Kennedy Center. As a biochemical geneticist and child neurologist, his primary clinical interests include the evaluation and management of children with inborn metabolic diseases and other genetic conditions that cause neurodevelopmental disabilities, such as global developmental delay, intellectual disability, autism, epilepsy, and cerebral palsy. He also serves as the Associate Director of the Pediatric Residency Program at Vanderbilt.