Program
Download the Abstract Brochure 2014Â here
WEDNESDAY, March 5Th, 2014
REGISTRATION OPENS AT 12 AM
14 to 17:Â AFTERNOON SESSION A:
Stem Cell and Cell Therapy Approaches
Chairwoman: Dr. Marisa Jaconi, University of Geneva
- Prof. Giulio Cossu, UKÂ « 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:Â Poster Session
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18 to 20:Â Public Opening Ceremony
Welcome
- Dr. Jörg Reinhardt, Novartis, Chairmen of the Board of Directors
Moderation: Prof. Susan Gasser, Director, Friedrich Miescher Institute, Basel, Switzerland
- Dr. David M. Lee, Novartis Institutes for Biomedical Research, CH « Rare Disease Research: The promises and the challenges »
- Yann Le Cam, EURORDIS, FR « European Rare Disease Research Agenda: The Patients’ Perspective »
- Prof. Stephen C. Groft, NIH-ORDR, USA « Global Research Collaborations: Are We Reaching Our Goals for Rare Diseases? »
20:Â Welcome Reception
THURSDAY, MARCH 6Th, 2014
8.45 to 12:Â 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, USAÂ « 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 ShowcaseÂ
13 to 14:Â POSTER SESSIONÂ
14 to 17.45:Â AFTERNOON SESSION C:
 Pathophysiology and Diagnostics
Chairman: Dr. Mike Morris, synlab, Lausanne
- Prof. Dennis Lo, HK « Noninvasive prenatal testing using cell-free fetal DNA in maternal plasma »
- Prof. Cécile Janssens, USA « How predictive is our DNA? »
- Prof. Ephrat Levy-Lahad, IL « From Mutation to Pathogenesis in Rare Diseases »
- Dr. Anne Puel, FR « Inborn errors of human IL-17 immunity underlie chronic mucocutaneous candidiasis »
- Prof. Orly Elpeleg, IL « Whole Exome Sequencing in Rare Diseases »
- Dr. Francisca MarÃa Sánchez-Jiménez (Abstract No34) « Searching for Biomedical Relationships among Genes and Diseases: a great ally for rare diseases »
- Prof. Marshall Summar, USAÂ « Rare Disease Registries Succesful Models and Lessons »
17.45 to 19:Â POSTER SESSIONÂ
FRIDAY, MARCH 7Th, 2014
8.45 to 12:Â 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, CHÂ « Novel treatment strategies for muscular dystrophy »
- Prof. Lakshminarayan Ranganath, UK « Advances in the treatment of Alkaptonuria: the nitisinone experience »
- Prof. Colin McKerlie, CANÂ « 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 Schäfer (Abstract No35) « Activation of Nrf2 in keratinocytes causes chloracne (MADISH)-like skin disease in mice »
- Dr. Jordi Surrallés, (Abstract No21) « Fanconi anemia: from gene discovery to gene therapy »
12 to 13: Lunch                12 to 14: Lunch-Workshop: Neurocognitive Disorders
13 to 14:Â POSTER SESSION
14 to 17:Â 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:Â POSTER SESSIONÂ
18 Delegates’ dinner with Apéro
SATURDAY, MARCH 8Th, 2014
9 to 12.30:Â MORNING SESSION F:
Patients and Research
Chairman: Dr. Nick Sireau, AKU Society, UK
- Karen Aiach, FRÂ « Lessons learned from a pioneering phase I/II gene therapy trial in Sanfilippo syndrome »
- Dr. Nick Sireau, UKÂ « 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, CHÂ « Regulatory frameworks and incentives for development of Orphan Medicinal Products »
- Kay Parkinson, UK « Patients and Research »
- Prof. Philippe Gorry, FRÂ « Role of academic research in the discovery of Orphan Drugs »
Program updated March 3, 2014