- Lectures / Webinars
- Unraveling Ultra-Rare Neurometabolic Disorders: Tales of Next-Generation Sequencing, Deep Phenotyping, and Team Science
Unraveling Ultra-Rare Neurometabolic Disorders: Tales of Next-Generation Sequencing, Deep Phenotyping, and Team Science
ICNTN Grand Rounds Webinar
Recording availableUnraveling Ultra-Rare Neurometabolic Disorders: Tales of Next-Generation Sequencing, Deep Phenotyping, and Team Science
A recorded ICNTN Grand Rounds webinar exploring rare and ultra-rare neurometabolic disorders through next-generation sequencing, deep phenotyping, and collaborative diagnostic medicine.
Recording
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 shares 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.
International Child Neurology Association · ICNA Lectures & Webinars