N3 - Neuroscience in the Clinic: Challenges in Genetic Diagnosis in Neurology

Event Time: Tuesday April 24, 2018 1:00 pm to 3:00 pm
Topic(s): Aging, Dementia, Cognitive, and Behavioral Neurology, General Neurology, Movement Disorders, Neuromuscular and Clinical Neurophysiology (EMG)
Director(s): Guy Rouleau MD, PhD, Massimo Pandolfo MD, FAAN
Description: Genetic testing is becoming increasingly prevalent and their interpretation sometimes difficult. The program will consist of a presentation of a complex case, followed by discussion that will illustrate the science that led to the current state of the art, where it is expected to move, how this impacted practice, what are the unmet needs in the clinic.
Completion Message: Participants should become familiar with the issues involved in the interpretation of genetic testing results, including the assessment of the potential pathogenicity of the identified genetic variants and their correlation with phenotype.
CME Credits: 2
Core Competencies: Patient Care, Medical Knowledge

Abstract Presenters

Start Time Pub. Title Presenter
2:00 PM 001 Integrated Whole Exome Sequencing and Chromosomal Microarray in Familial Parkinson’s Disease Laurie Robak
Dr. Robak has nothing to disclose.

2:15 PM 002 Expanding the Genetic Spectrum of Congenital Sensory and Autonomic Neuropathies with Whole Exome Sequencing Jose-Alberto Palma, MD, PhD
Dr. Palma has received personal compensation for consulting, serving on a scientific advisory board, speaking, or other activities with Lundbeck. Dr. Palma has received personal compensation in an editorial capacity for Clinical Autonomic Research.

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