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8th Rare Disease Summer School

Wednesday, July 13th to Friday, July 15th 2022 Kartause Ittingen, Warth (Canton Thurgau)

After two years of pandemic, we were able to carried out the 8th Rare Disease Summer School within the new framework of the URPP ITINERARE. The event was attended by 25 young clinicians and researchers, most of which were PhD students (60%). The background of the participants ranged from Natural Science (44%) to Medicine (24%) to other other disciplines (32%) such as Psychology, Sociology, Businness and Innovation.

The newly introduced lecture on "Regulatory framework for advanced therapy medicinal products (ATMPs) on the basis of a case study" by Dr. Fabienne Hartmann-Fritsch was rated the highest showing the strong interest of the students for translational science and innovative therapies.

We thank all the partcipants and speakers for bringing and sharing their expertise, experience, and ethusiasm in the rooms of the Kartause and for engaging in fruitful, constructive and open exchanges throughout the Summer School!




Take home

Weiterführende Informationen

Congratulations to the winners of the prizes!


Lisa Ela Blettenberg

from the University Medical Center Hamburg-Eppendorf (UKE) with the poster: "Rescue of MCAD function by pharmacological chaperones"


Patrick Krohn

from the University of Zurich with the oral presentation: "Multisystem involvement, defective lysosomes and impaired autophagy in a novel rat model of nephropathic cystinosis"

Confirmed speakers (in alphabetical order)

Dr. Jasmin Barman-Aksözen
Scientific advisor, Swiss society for porphyria, Switzerland
Prof. Michele De Luca
Rigenerative Medicine Center, Modena and Reggio Emilia University, Italy
Prof. Andrew Dwyer
Boston College, Boston, USA
Dr. Fabienne Hartmann-Fritsch
CUTISS AG, Switzerland
Mr. Julian Isla
Dravet Syndrome Foundation, Spain
Prof. Sebastian Jessberger
Brain Research Institute, University of Zurich, Switzerland
Dr. Paulina Jirkof
Office for Animal Welfare and 3R, University of Zurich, Switzerland
Prof. Nine Knoers
Chair Dept. of Genetics, University Medical Center Groningen, the Netherlands
Prof. Stephan Neuhauss
Department of Molecular Science, University of Zurich, Switzerland
Dr. Jürg Streuli
Insitute of Biomedical Ethics, University of Zurich, Switzerland
Prof. Marshall Summar
Children‘s National Medical Center, George Washington University, Washington DC, USA