9th Rare Disease Summer School

As every year, the ITINERARE summer school was one of the highlights of our academic year. At this exclusive event at the peaceful Kartause Ittingen in the Region of Thurgau young clinicians and researchers mingle with experienced specialists from rare disease research as well as with patients to exchange and discuss the current research and public health situation for rare disease.

Thanks to an international group, the participants got insights from different health systems – realizing that different countries face the same challenges – but also, that people in the field share the passion to move things forward.

Beside lectures and interactive workshops the summer school offers a platform for short presentations and poster sessions on current research projects of the participants. There also is enough time to network and exchange ideas in more relaxed settings, like the BBQ evening in the fields next to the monastery, nowadays used as seminary hotel and cultural heritage museum.  

Participants appreciate to get a better overview on the complexity of rare disease, the financial and ethical framework, insights in different research fields and national settings as well as the importance of patient involvement and biological databases (rare disease registries).

Besides our regular speakers that come back every year talking on the first drug for treating erythropoietic protoporphyria (Dr. Jasmin Barman-Aksözen), rare disease in general (Prof. Marshall Summar, USA), Genetic Sequencing (Prof. Nine Knoers, NL), Patient Centered Approaches (Prof. Andrew Dwyer, USA), Zebra Fish Studies (Prof. Stephan Neuhauss, CH) this year we learned about rare immune and autoimmune disorders  detected due to the COVID-19 pandemic presented by Dr. Paul Bastard, FR).

Don’t miss the opportunity to join us next year! 9^th – 12^th July 2024! Save the date and send us your contact for an registration call in spring 2024.

Svenja Keller from the University of Zurich won the price for the best oral presentation on: "Dietary and Pharmacological Regulation of the Autophagy-lysosomal Pathway in Rare Kidney Disease".

The poster price was sharded between Ilaria Cocchiararo from the University of Geneva (Pathomechanisms involved in the selective affection of skeletal muscle in X-linked Myopathy with Excessive Autophagy) and Andrei Rotari from the LMU Munich (Identifying drugs to target NFE2L/KEAP1-mediated drug resistance in rare liver childhood cancers).