About the topic

Neurometabolic disorders result from defects in key biochemical pathways, leading to the accumulation of toxic metabolites, storage of complex molecules, or failure of cellular energy production. Many of these conditions are rare or ultra-rare. Dr. Sen will share his experience in diagnostic medicine, highlighting the nuances of genetic testing, deep phenotyping, and collaborative research in solving challenging clinical cases.

Speaker

Learning Objectives

By the end of this session, participants will be able to:

• Identify genetic mimics of common neurologic conditions and explain genetic and clinical heterogeneity.
• Compare the concepts of Occam’s Razor and Double Pendulum Theory.
• Analyze exome negative cases and the next steps.