N2 - Neuroscience in the Clinic: Interpretations of Genetic Results
| Event Time: | Monday May 6, 2019 1:00 pm to 3:00 pm |
| Topic(s): | General Neurology, Neuromuscular and Clinical Neurophysiology (EMG) |
| Director(s): | Massimo Pandolfo MD, FAAN, Karen Marder MD, MPH, FAAN |
| Description: | As genetic testing becomes more prevalent, the interpretation of results becomes more challenging for the practicing neurologist. These tests may report numerous variants whose relevance in causing the phenotype is difficult to determine. This program aims to provide guidance on how to identify pathogenic mutations, how to interpret the often reported "variants of unknown significance", and how to communicate this information to the patients and their families. 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, Professionalism, Medical Knowledge |
| Start/End Time | Title | Faculty |
|---|---|---|
| 1:00 PM - 1:05 PM | Introduction | Karen S. Marder MD, MPH, FAAN, Massimo Pandolfo MD, FAAN |
| 1:05 PM - 1:20 PM | Case Presentation | Nancy Anoja MSc, CCGC |
| 1:20 PM - 1:40 PM | Approaches to Genetic Testing | Ruth Ottman PhD |
| 1:40 PM - 2:00 PM | Genetic Testing in Neurological Practice | Guy A. Rouleau MD, PhD |
| 2:30 PM - 3:00 PM | Panel Discussion | Karen S. Marder MD, MPH, FAAN, Massimo Pandolfo MD, FAAN |
| Speaker | Disclosure |
|---|---|
| Nancy Anoja, MSc, CCGC | Dr. Anoja has nothing to disclose. |
| Karen S. Marder, MD, MPH, FAAN | Dr. Marder has received personal compensation in an editorial capacity for Springer. Dr. Marder has received research support from Research support as site PI for TEVA, Azevan, Vaccinex and Roche. |
| Ruth Ottman, PhD | Dr. Ottman has nothing to disclose. |
| Massimo Pandolfo, MD, FAAN | Dr. Pandolfo has received personal compensation for consulting, serving on a scientific advisory board, speaking, or other activities with Voyager Therapeutics, Biomarin, Apopharma. Dr. Pandolfo has received personal compensation in an editorial capacity for Neurology Genetics. Dr. Pandolfo has received royalty, license fees, or contractual rights payments from Athena Diagnostics. Dr. Pandolfo has received research support from Biomarin, Voyager Therapeutics. |
| Guy A. Rouleau, MD, PhD | Dr. Rouleau has nothing to disclose. |
| Start Time | Pub. | Title | Presenter |
|---|---|---|---|
| 1:00 PM | 001 | Assessing ACMG Criteria for the Classification of Reported ALS Gene Mutations: Utility, Pitfalls, and Recommendations |
Disclosure: Dr. Leighton has nothing to disclose.
|
| 1:00 PM | 002 | Investigation of TTN Variants in Patients with Limb-Girdle Muscular Dystrophy Identifies Novel Titinopathies |
Disclosure: Dr. Rich has nothing to disclose.
|