A precise control of lipid synthesis and distribution is crucial for cell function and survival. Many pathologic conditions cause intracellular aggregation of macromolecules leading to dysfunction and degeneration of neurons, but the mechanisms are largely unknown. Prime examples are the lysosomal storage disorders such as Niemann-Pick type C (NPC) disease, a rare and ultimately fatal autosomal recessive lysosomal storage disorder with aggravating neurologic symptoms, where defects in the endosomal-lysosomal protein NPC1 or NPC2 cause intracellular accumulation of cholesterol and other lipids leading to neurodegeneration. Two important current challenges in the field are (1) to better understand the regulation of the transport and trafficking of cholesterol and lipids in health and pathologic conditions, and (2) to translate the findings into development programs on novel NPC therapies.
This Neurex meeting will explore these topics including results from fundamental research as well as clinical data and related issues. Due to fragmented knowledge and the resources on rare diseases, and the lack of treatment for the majority of them, rare diseases represent a major challenge for research. Thus, our meeting might help to push rare disease research forward.
9h00 9h30 Welcome coffee
9h30 9h45 Introduction : Anne Eckert (Basel, Switzerland)
9h45 10h05 Christine Tranchant (Strasbourg, France)
Clinical diagnosis of Niemann Pick C disease
10h05 10h45 Marianne Rohrbach (Zürich, Switzerland)
The broad clinical presentation of NPC: the Swiss cohort as an example.
10h45-11h15 Coffee break
11h15 11h55 Martin Grootveld (Leicester, UK)
Potential Applications of NMR-Linked Metabolomics to the Diagnosis/Prognostic Monitoring of Niemann Pick type C and other Lysosomal Storage Diseases
11h55 12h35 Frank Pfrieger (Strasbourg, France)
Neurodegeneration in Niemann-Pick Disease type C : mechanisms and therapeutic approaches
12h35 14h00 Lunch break
14h00 14h40 José Carlos Fernandez-Checa (Barcelona, Spain)
Mitochondrial cholesterol in neurodegeneration
14h40 15h20 Elina Ikonen (Helsinki, Finland)
Regulation of endosomal lipid trafficking via NPC2
15h20 15h50 Coffee break
15h50 16h30 Silva Katušić Hećimović (Zagreb, Croatia)
Niemann-Pick type C disease and Alzheimer's disease – the cholesterol connection
16h30 17h10 Fabien Alpy (Strasbourg, France)
Cholesterol transport in endoplasmic reticulum – endosome membrane contact sites
DATES AND VENUE
Thursday, the 20th of September 2018
1 Hörsaal DR 1.09,
Universität Psychiatrie Klinik,
Wilhelm Klein-Strasse 27
PLEASE NOTE THAT...
Neurex workshops are part of the cycle B5 of the University of Basel. They allow students to gain Credit Points from attending workshops/meetings.
This specific workshop will give rise to the attribution of 1/2 CP.
Important: Full rules & how to proceed available here.