Cell trafficking and complex lipids: an interconnected network of rapidly expanding disorders

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Course overview and objectives

Cellular trafficking is essential for maintaining critical biological functions. Mutations in over 370 genes, mostly identified in the last five years, are linked to cellular trafficking disorders. Initially limited to membrane trafficking, recent disease discoveries have unveiled new biological pathways. Complex lipid metabolism is closely related to cell trafficking due to the constant need for lipid supply and remodelling in vesicles and organelle membranes.

Clinically, these disorders often present multisystem symptoms that can resemble mitochondrial, peroxisomal, and lysosomal defects. Metabolic crises, such as rhabdomyolysis, hepatic failure, neurological symptoms, and biochemical abnormalities, can occur. These diseases can affect any organ at any age, though the nervous system is particularly vulnerable. This course will cover the clinical presentations and mechanisms of these inborn metabolic diseases. Practical workshops will address diagnostic and treatment questions.