10th Rare Disease Summer School

As every year, the ITINERARE Summer School was one of the highlights of our academic year. This exclusive event, held at the tranquil Kartause Ittingen in Thurgau, brings together young clinicians and researchers with experienced rare disease researchers, practitioner and patients to exchange ideas and discuss the current situation in rare disease research and healthcare.

Thanks to a great international group of speakers, participants gained insights into different healthcare systems and realized that different countries face the same challenges. What they all have in common is a passion to move things forward in the field of rare diseases.

Participants value the opportunity to gain a better overview of the complexity of rare diseases, the financial and ethical framework, insights into different research areas and national contexts, as well as the importance of patient involvement and biological databases (rare disease registries).

We welcomed Prof. Andreas Papassotiropoulos (Department of Biomedicine, University of Basel, Switzerland) as our keynote speaker on "Molecular underpinnings of rare, extreme memory performance".

Hansruedi Silberschmidt presented his experience as a patient: No coughing - living with a rare disease.

This year we also welcomed:

Prof. Nine Knoers (Department of Genetics, University Medical Center Groningen, the Netherlands): Latest developments in exome and genome sequencing: impact for rare diseases

Dr. Jasmin Barman-Aksözen (Scientific advisor, Swiss society for porphyria, Switzerland): Let the sunshine in! Development, approval and benefit assessment of afamelanotide, the first drug for treating erythropoietic protoporphyria.

Prof. Marshall Summar (Children‘s National Medical Center, George Washington University / CEO: Uncommon Cures, USA): Rare diseases today and Designing rare disease clinical trials

Prof. Stephan Neuhauss (Department of Molecular Science, University of Zurich, Switzerland): Studying rare diseases in the (not so rare) Zebrafish model organism

Prof. Isaac Canals (University Children’s Hospital Zurich, Switzerland): iPSC and genome editing as tools to generate human in vitro models of neuronopathic lysosomal storage disorders

Dr. Fabienne Hartmann-Fritsch (University of Zurich, CUTISS AG, Switzerland): Regulatory framework for ATMPs on the basis of a case study

Prof. Olivier Devuyst (Institute of Physiology, University of Zurich, Switzerland): Genetic architecture driving therapeutic targets in kidney diseases

Prof. Günter Schwarz (Department of Biochemistry, University of Cologne, Germany): Regulatory approval of a first treatment for the ultra-rare molybdenum cofactor deficiency

Kelly Ormond (Health Ethics and Policy Lab, D-Heath Sciences and Technology, ETH-Zurich, Switzerland): Ethics of Genetic Testing and Treatments of Genetic Conditions

Prof. Elvir Becirovic (Department of Ophthalmology, University Hospital Zurich, Switzerland): Treatment of inherited retinal diseases: chances and obstacles

Prof. Britta George (Department of Nephrology, University Hospital Zurich, Switzerland): Drosophila melanogaster as a model to study rare kidney diseases

PD Dr. Jürg Streuli (Stiftung Dialog Ethik): Interactive workshop about ethical considerations

There was also plenty of time to socialize and exchange ideas in a more relaxed atmosphere, for example over a barbecue in the fields next to the monastery, which is now used as a seminar hotel and heritage museum.

Don't miss the opportunity to join us for our next Summer School in 2026 - check our website for dates or follow us on LinkedIn and X!

In addition to lectures and interactive workshops, the Summer School provides a platform for short presentations and poster sessions on participants' current research projects.

This year’s winners are:

Diana Tintor from the University Children’s Hospital Zurich (Poster Prize) and David Mittas from the Ludwig-Maximilian-Universität München (Presentation Prize).