React Congress
React Congress
React Congress
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  • Bologna
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Full program

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TUESDAY, MARCH 6th

E-RARE Monitoring meeting, by invitation only, all day 9 to 17

RE(ACT) CONGRESS 2018:

WEDNESDAY, MARCH 7th

Special morning sessions 9 to 12 open to all:

Parallel session 1: Undiagnosed Diseases Network International (UDNI) – Chairs: Domenica Taruscio, Stephen Groft

Panellists:

  • Helene Cederroth, SE “The Undiagnosed” Slides
  • William Gahl, USA “The NIH Undiagnosed Diseases Program and Network”
  • Stephen Groft, USA“Undiagnosed Diseases: Meeting the Needs of the Rare Diseases Community” Slides
  • Domenica Taruscio, IT “Undiagnosed Rare Diseases: a bilateral project between Italy (Istituto Superiore di Sanità) and USA (NIH)” Slides
  • Alessandra Ferlini, IT“Undiagnosed and not diagnosed: a genetic view ” Slides
  • Paraskevas Patropoulos, IT “Undiagnosed Rare Disease Network Italy Update of the Bergamo’s center” Slides

Parallel session 2: European Reference Networks (ERNs), where we stand? – Chair Luca Sangiorgi

Pannelist:

  • Maurizio Scarpa, DE; European Reference Networks
  • Holm Grassner, DE; European Reference Network ERN-RND
  • Luca Sangiorgi, IT; BOND European Reference Networks
  • Daria Julkowska, FR; E-RARE and Europe Joint Program

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
  • Chiara Ciriminna, CH: RE(ACT) Community and #RAREvolution program Slides
  • Gabriela Costa Cardoso, BR (Abstract n° A005) “Genetically Isolated Populations in Brazil”

POSTER SESSION A 17 to 18

Public Opening Ceremony 18 to 20 

Welcome message: Olivier Menzel and Daria Julkowska

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”

  • Marco Gattorno, IT “Impact on NGS in daily practice in autoinflammatory diseases” Slides
  • Vincenzo Nigro, IT“Next NGS approaches to the unsolved: Telethon Undiagnosed Program”  Slides
  • Lisenka Vissers, NL “The circle of NGS innovation: from research to diagnostics and back” Slides
  • 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”
  • Kristina Hettne, NL “Multi-omics analysis powered by massive data integration” Slides
  • Roman Chrast, SE “The role of endoplasmic reticulum-mitochondria crosstalk in axonal maintenance” Slides
  • Michela Soardi Pathophysiology, IT (Abstract n° C002) “Novel zebrafish models of sarcoglycanopathy”

FRIDAY, MARCH 9th

D. Session, Morning 9 to 12
 “Gene and cell therapy”

  • Peter Lenting, FR “Small Antibody Fragments as Alternative Tools in Haemophilia Care” Slides
  • Tatiana Petrova, CH “Dissecting the biology of lymphedema-distichiasis” Slides
  • 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”

SATURDAY, MARCH 10th


Rare Disease Day Emilia Romagna – Program

Program updated March 27, 2018

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  • About
  • Attendees
    • Venue
    • Bologna
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    • Full program
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