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Daniel Ory, MD - "Niemann-Pick C: A Disorder of Cholesterol Homeostasis"

Senior VP, Translational Medicine, Casma Therapeutics, Cambridge, MA (USA)
When Nov 27, 2018
from 12:00 PM to 01:30 PM
Where Tigem Auditorium "Vesuvius"
Contact Name
Contact Phone 08119230659
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Abstract
Niemann-Pick type C1 (NPC1) disease is an autosomal recessive neurovisceral disease characterized by progressive lipid accumulation. Mutations in NPC1 (95% of NPC cases) and NPC2 are responsible for NPC in humans. Diagnosis of the disease has been challenging, often leading to diagnostic delays of more than 4-5 years. Therapeutic options are limited. The only approved therapy for NPC is miglustat, an inhibitor of glycosphingolipid synthesis that has shown limited efficacy. In this seminar, advances in NPC diagnostics and treatments will be presented.

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