A. Session, Afternoon 14 to 17 “Opportunities in rare diseases around the world”
Maurizio Scarpa, DE: European References Networks (ERNs): “The European Reference Network Program and the MetabERN (ERN for Rare Hereditary metabolic Diseases)” Slides
Hugh Dawkins, AU: IRDiRC and RD Connect “Opportunities in rare diseases around the world” Slides
Daria Julkowska, FR: E-Rare and the European Joint Programme on Rare Diseases “The coordination of rare diseases research in Europe – The European Joint Programme on Rare Diseases” Slide
Professor Silvio Garattini, IT, pioneer in rare disease research, professor in chemotherapy and pharmacology and director of the Mario Negri Institute for Pharmacological Research. “Rare diseases and orphan drugs” Slides
Professor William Gahl, USA searches for answers to some of the most confounding undiagnosed diseases. Senior investigator at the Intramural Research Program an National Institute of Health (NIH). “The NIH Undiagnosed Diseases Program and Network” Slides
Professor Harvey F. Lodish, USA, professor at the Massachusetts Institute of Technology (MIT), Founding Member of the Whitehead Institute for Biomedical Research and lead author of the textbook Molecular Cell Biology. “Academic Entrepreneurs, New Technologies, and Building Companies to Treat Rare Diseases” Slides
THURSDAY, MARCH 8th
B. Session, Morning 9 to 12 “NGS and undiagnosed rare diseases”
Vittoria Cicaloni, IT (Abstract n° C005) “An integrated interactive ecosystem for alkaptonuria: a tool for physicians and researchers”
John Dawson, UK (Abstract n° B003) “RD-Connect: data sharing and analysis for rare disease research within the integrated platform and through GA4GH Beacon and Matchmaker Exchange”
Lunch 12 to 13
POSTER SESSION B & C 13 to 14
C. Session, Afternoon, 14 to 17 “Pathophysiology”
Nicolas Lévy, FR “Pathophysiology and Therapeutic developments in Progeroid Syndromes”
Luigi Naldini, IT“Exploiting Gene Editing to enhance Safety and Efficacy of Gene Therapy for rare Diseases”
Lunch 12 to 13
POSTER SESSION D & E 13 to 14
E. Session, Afternoon 14 to 17 “Neurological diseases”
Antonio Federico, IT“The lesson of Rare Neurologic Diseases to clinical neurologists and neuroscientists for understanding normal and pathological nervous system functions” Slides
Jesus Requena, ES“In search of a therapy for Creutzfeldt-Jakob disease: identification of chemical chaperones that stabilize the prion protein PrP”
Edward Wild, UK “Progress in Huntington’s disease: drugs, biomarkers and community”
Giovanni Stevanin, FR (Abstract n° E004) “Sphingolipid metabolism as a therapeutic target for patients with Hereditary Spastic Paraplegia 11 / Amyotrophic Lateral Sclerosis 5”