6th Rare Disease Summer School

from the University of Zurich with the poster: "Impaired Mitophagy Links Mitochondrial Dysfunction and Epithelial Damage in Methylmalonic Aciduria"

from the University Children's Hospital Münster with the poster:"SLC39A8 - the interface of glycosylation and trace element metabolism"

"I liked the combination of high-level science presentations and every-day challenges reported by people direcly afftected by a rare disease"

"I really enjoyed the possibility to interact with other people, creating networks by speaking about work and personal life too"

Dr. Jasmin Barman-Aksözen, Scientific advisor, Swiss society for porphyria: Clinical trial design and approval process
Dr. Gisèle Bonne, Institute of Miology, Paris: Muscular dystrophies
Prof. Andrew Dwyer, Boston College, Boston, USA:  Reproductive endocrinology 
Christina Fasser, Vice-President ProRaris, President Retina International: Patient-initiated research
Prof. Nine Knoers, University Medical Centre Utrecht, Utrecht, The Netherlands: Exome sequencing
Dr. Roger Gfrörer, University of Zurich, Switzerland: Scientific career
Samantha Parker, Lysogene: Rare Diseases registries
Prof. Guenter Schwarz, Cologne University: Drug development
Prof. Marshall Summar, Children‘s National Medical Center, George Washington University, Washington DC, USA: Clinical endpoints
Prof. Effy Vayena, University of Zurich: Ethical considerations
Prof. Eckhard Wolf, Gene Center, LMU Munich, Germany: Model organisms
Dr. Martine Zimmermann & Camille Métai, Alexion Pharma International: Regulatory Frameworks