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All(ways) in the Family? Genetic Testing for Hereditary Neurological Disorders

Friday, June 28, 2019
1 hour
C.E.U.: 1 Category 1 Contact Hour
P.A.C.E.: 1 Unit

This talk will provide an overview of various hereditary neurological disorders and the genetic testing that can be helpful to clarify a diagnosis, and inform possible treatment and management options. We will review disorders relevant to both pediatric and adult settings, such as movement and gait disorders, neuromuscular disorders, epilepsy, and memory disorders. We will explore the different types of genetic testing available for various indications and how clinicians might decide which test(s) to use.

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Amanda Bergner
Director, GC Program
   

Amanda Bergner completed her genetic counseling graduate education at the University of California, Berkeley. She is a diplomate of the American Board of Genetic Counseling and has been involved in graduate-level education of genetic counseling, medical and nursing students for the past 17 years. Ms. Bergner is active within the broader field of genetic counseling. She is currently the President of the Accreditation Council for Genetic Counseling and an author for the forthcoming Neurofibromatosis Practice Resource and Epilepsy Genetic Testing Practice Guideline. Additionally, she has maintained a busy clinical practice through the years – first at UCSF in biochemical genetics, then at Johns Hopkins in general genetics and neurogenetics, and now at Columbia New York Presbyterian Hospital. Her research has focused primarily on elucidating the experience of individuals and families living with neurogenetic disorders, addressing topics such as measures of quality of life, the use of patient-reported outcome measures as endpoints for therapeutic clinical trials, and the use of mobile technology to support communication.

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Susan Toomey
Genetic Specialist II

Susan Toomey joined Ambry Genetics in 2017 as the General Genetic Specialist for the Mountain and Pacific Northwest territories. Susan received her Masters of Science Degree in Biophysics and Genetics from the University of Colorado; and holds a BA in Sociology and Evolutionary Science from the University of Cincinnati. She has held previous genetic counseling positions at the Colorado Genetics Laboratory, Colorado Center for Reproductive Medicine, and the Children’s Hospital Colorado in the Neurocutaneous and Neuromuscular Clinics.