Program

Download the Abstract Brochure 2014 here

WEDNESDAY, March 5Th, 2014

REGISTRATION OPENS AT 12 AM

14 to 17: AFTERNOON SESSION A:

Stem Cell and Cell Therapy Approaches

 

Chairwoman: Dr. Marisa Jaconi, University of Geneva

  • Prof. Giulio Cossu, UK¬† »Cell therapy for muscular dystrophies »
  • Prof.¬†Alan Tyndall, CH¬† »Stem Cell Therapies of Autoimmune Diseases »
  • Prof.¬†Marc Peschanski, FR¬† »Harnessing pluripotent stem cells derivatives to decipher mechanisms and identify treatments for monogenic diseases »
  • Prof.¬†Yann Barrandon, CH¬† »A clonal strategy for safe ex vivo gene therapy of epidermis »
  • Dr. Sarah ¬†Decembrini (Abstract No 20) « Derivation of traceable and transplantable photoreceptors from mouse embryonic stem cells »

 

17 to 18: Poster Session

 

18 to 20: Public Opening Ceremony

 

Welcome

  • Dr. J√∂rg Reinhardt, Novartis, Chairmen of the Board of Directors

Moderation: Prof. Susan Gasser, Director, Friedrich Miescher Institute, Basel, Switzerland

 

20: Welcome Reception


THURSDAY, MARCH 6Th, 2014

8.45 to 12: MORNING SESSION B:

Mapping Diseases and Genome Instabilities

 

Chairman: Prof. Stylianos Antonarakis, University of Geneva Medical School

  • Prof.¬†Thaddeus Dryja, USA « Special considerations for phase I trials of gene therapies for retinitis pigmentosa and allied retinal degenerations »
  • Prof. Nicholas Katsanis, USA¬† »Modelling the Morbid Pediatric Genome »
  • Prof.¬†Stanislas Lyonnet, FR¬† »Non-coding genome alterations in rare development anomalies »
  • Prof.¬†Alexandre Reymond, CH¬† »Chromatin loops and CNVs: the complex spatial organization of the 16p11.2 locus »
  • Dr.¬†Davide Gabellini, IT¬† »FSHD muscular dystrophy provides a molecular understanding of the repetitive (epi)genome »
  • Dr. Terrence¬†Meehan (Abstract No32) « Informing rare disease mechanisms: informatics for the international mouse phenotyping consortium »

 

12 to 13: Lunch                           12 to 14: Lunch-Symposia: Swiss Research Showcase 

13 to 14: POSTER SESSION 

14 to 17.45: AFTERNOON SESSION C:

 Pathophysiology and Diagnostics

 

Chairman: Dr. Mike Morris, synlab, Lausanne

 

17.45 to 19: POSTER SESSION 

 

 


FRIDAY, MARCH 7Th, 2014

8.45 to 12: MORNING SESSION D:

Bringing Treatments to the Clinic

 

Chairman: Dr. Jordi Surrallés, University of Barcelona

  • Prof.¬†Marc Tardieu, FR¬† »Development of an intra-cerebral gene therapy trial in Sanfilippo disease Type A »
  • Prof. Michael Sinnreich, CH¬† »Novel treatment strategies for muscular dystrophy »
  • Prof.¬†Lakshminarayan¬†Ranganath, UK¬† »Advances in the treatment of Alkaptonuria: the nitisinone experience »
  • Prof. Colin McKerlie, CAN¬† »Systematic large-scale gene function analysis of the mouse genome: An opportunity for new mouse models of rare diseases for research and drug discovery »
  • Dr. Corinne¬†Kostic (Abstract No29) « Optimization of RPE65-gene transfer using a lentiviral vector for LCA treatment »
  • Dr. Matthias¬†Sch√§fer (Abstract No35) « Activation of Nrf2 in keratinocytes causes chloracne (MADISH)-like skin disease in mice »
  • Dr. Jordi Surrall√©s, (Abstract No21) « Fanconi anemia: from gene discovery to gene therapy »

 

12 to 13: Lunch                            12 to 14: Lunch-Workshop: Neurocognitive Disorders

13 to 14: POSTER SESSION

14 to 17: AFTERNOON SESSION E:

Degenerative Disorders

Chairman: Prof. Denis Monard, Friedrich Miescher Institute

  • Prof.¬†Jose-Alain Sahel, FR¬† »Vision restoration strategies in blinding retinal dystrophies »
  • Prof.¬†Robert D. Goldman, USA¬† »Altered Intermediate Filament Networks are the Hallmarks of Many Rare Diseases »
  • Prof.¬†Colin L. Stewart, SG¬† »Analyzing Progeria to provide insights into the mechanisms of ageing »
  • Prof.¬†Gisele Bonne, FR¬† »Laminopathies of the striated muscle: from gene defects towards pathophysiological mechanisms »
  • Dr. Caterina Giacomini (Abstract No16) « Abnormal Lamin B1 levels affect Neuronal Viability and Differentiation »
  • Dr. Simon¬†Waddington (Abstract No27) « Perinatal gene therapy rescues acute neonatal lethal Neuronopathic Gaucher Disease in mice »

 

17 to 19: POSTER SESSION 

18 Delegates’ dinner with Apéro

 

 


SATURDAY, MARCH 8Th, 2014

9 to 12.30: MORNING SESSION F:

Patients and Research

 

Chairman: Dr. Nick Sireau, AKU Society, UK

  • Karen Aiach, FR¬† »Lessons learned from a pioneering phase I/II gene therapy trial in Sanfilippo syndrome »
  • Dr. Nick Sireau, UK¬† »Curing Black Bone Disease: lessons from a major clinical trial »
  • Samantha Parker, FR « European Rare Diseases Networks in the field of metabolic diseases »
  • Dr. Martine Zimmermann, CH¬† »Regulatory frameworks and incentives for development of Orphan Medicinal Products »
  • Kay Parkinson, UK « Patients and Research »
  • Prof. Philippe Gorry, FR¬† »Role of academic research in the discovery of Orphan Drugs »

 

Program updated March 3, 2014