Translational approaches in cholesterol & lipids transport dysfunction and related disorders

September 20, 2018

Basel (Switzerland)


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      11h55    Session 1: Niemann Pick Type C disease & lipid transport dysfunction-related disorders. From a clinical overview to rodent models                        

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      Session 2: Niemann Pick Type C disease & lipid transport dysfunction-related disorders. Pathophysiological mechanisms.                              

11h55    12h35    Frank Pfrieger (Strasbourg, France)                        

                            Neurodegeneration in Niemann-Pick Disease type C : mechanisms and therapeutic approaches               

12h35    14h00    Lunch break                      

14h00    17h10    Session 2 (continued)                   

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    17h10    Session 2 (continued)                   

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


Thursday, the 20th of September 2018


1 Hörsaal DR 1.09,

Universität Psychiatrie Klinik,

Wilhelm Klein-Strasse 27



Deadline for Registration : Sept. 19th, 2018

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.