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Multidisciplinary Course

Neurogenetics

Monday, June 9, 2025
1:45 PM – 4:15 PM ET
CE: 2.5

Audience:

Adult Neurologist, Child Neurologist, Resident, Fellow, Nurses with interest in topic

Learning Level:

Intermediate (Practicing Physician), Advanced (Special Interest, Higher Level Discussion)

Learning Format:

Lecture/plenary method

CanMEDs Roles:

Medical Expert, Professional

This session focuses on the evolving role of genetic testing in neurology, covering advancements, limitations, and ethical considerations. Participants will explore the latest breakthroughs in genetic testing, including whole-exome sequencing, and critically evaluate its utility and current limitations in clinical practice. The session will address the application of genetic testing in epilepsy, highlighting how specific genetic variants inform diagnosis, prognosis, and treatment strategies. Genetic testing in neuromuscular diseases, including mitochondrial DNA testing and the use of ancillary tools such as MRI and RNA sequencing on muscle tissue, will be reviewed to demonstrate comprehensive diagnostic approaches. Ethical challenges surrounding genome-wide sequencing, such as incidental findings, data interpretation, and patient counseling, will also be discussed to guide responsible implementation. This session aims to enhance clinical decision-making by integrating genetic insights with practical and ethical frameworks.

Learning Objectives:

  • Discuss the utility of specific genetic testing in discovering an underlying diagnosis.
  • Understand when to order genetic testing in children with epilepsy and which panels are most appropriate in which situations.
  • List the muscle and nerve disorders where genetic testing is useful and what the appropriate genetic tests would be, including when to include testing of the mitochondrial genome.
  • Comprehend the ethical issues that arise when ordering genetic testing and interpreting the results in the context of genome-wide sequencing.

Presentations:

  • 1:45 PM – 2:25 PM ET
    How useful is an exome anyway? (and what do I do with those unexpected results?)

    Speaker: Tugce Balci

  • 2:25 PM – 2:55 PM ET
    Genetic testing in epilepsy

    Speaker: Myriam Srour

  • 2:55 PM – 3:25 PM ET
    Ancillary testing in neuromuscular disease

    Speaker: Jodi Warman-Chardon

  • 3:25 PM – 3:55 PM ET
    The emerging diagnostic tool box for rare neurogenetic diseases

    Speaker: Kym Boycott

  • 3:55 PM – 4:15 PM ET
    Panel Discussion and Evaluation