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TUESDAY, MARCH 8Th

2016 E-RARE, Membership meeting (closed), all day 9 to 19

WEDNESDAY, MARCH 9Th

Workshop: Interactions between EMA and RD researchers on pre-licensing activities 9 to 13

• Pre-licensing activities of EMA with the presentation of relevant EMA services (COMP, SAWP, PDCO, CAT)
• Orphan designation and incentives for researchers including information on how to submit OD and Protocol assistance – how it works
• Lessons learnt from Horizon 2020 success stories on obtaining an OD

Face-to-face meetings with EMA officers 14 to 17

Limited places, please register by email (juliane.halftermeyer[at]agencerecherche.fr). Session dedicated to researchers that already prepared a draft submission package for OD or protocol assistance.

Workshop full program

A. Session, Afternoon 14 to 17 “Drug repositioning and personalized medicine”

• Bruce Bloom, USA “Back to the Future-How Drug Repositioning Has and Will Create Treatments for Unsolved Diseases”
• Luigi Maiuri, IT “Drug repositioning for the personalized therapy of cystic fibrosis”
• Leena Bruckner-Tuderman, DE “Repurposing losartan to ameliorate dystrophic epidermolysis bulls”
• Alex MacKenzie, CA “Pinging the Transcriptome; Mining the Pharmacopeia for Rare Inherited Disorder Therapies”
• Martina Cornel (Abstract n° A008) “Teaching an old dog new tricks? Lessons on using n-of-one trials to repurpose treatments for rare diseases: the example of ephedrine for myasthenia gravis”
• Dorianna Sandonà (Abstract n° A010) “Novel therapeutic perspectives for sarcoglycanopathy by assisting protein folding”

POSTER SESSION A 17 to 18

Public Opening Ceremony 18 to 20

• Christopher P. Austin, USA “Catalyzing Translational Innovation”
• Yann Le Cam, FR “ReAct for Patient Access to Innovation”

THURSDAY, MARCH 10Th

B. Session, Morning 9 to 12 “NGS and undiagnosed rare diseases” Session supported by Synlab

• Kerstin Nagel-Wolfrum, DE “Usher syndrome – challenges for diagnosis and treatment”
• Holger Prokisch, DE “Tracking Mitochondrial Diseases through Next Generation Sequencing”
• Corina Shtir, USA “An Effective Approach for Diagnosing Rare Genetic Diseases within the Saudi Population”
• Joris Veltman, NL “De novo mutations in intellectual disability: From gene to genome and from research to diagnostics”
• Stephan Pabinger (Abstract n° B005) “Interactive software for the integrated analysis and identification of rare and undiagnosed diseases using NGS data”
• Maria Segura-Puimedon (Abstract n° B012) “A genetic approach to complement newborn screening for actionable genetic conditions”
• Hiroshi Mizushima (Abstract n° F009) “Development of Remote Data Entry System for National Nambyo (Intractable Rare Disease) registry in Japan”

Lunch 12 to 13

POSTER SESSION B & C 13 to 14

C. Session, Afternoon, 14 to 17 “Pathophysiology”

• Inderjeet Dokal, UK “Dyskeratosis congenita and related diseases of telomeres”
• Hélène Dollfus, FR “Bardet-Biedl, Alström and related ciliopathies pathogenesis : from ultra rare diseases to more common diseases”
• Jan Hoeijmakers, NL “DNA Repair syndromes: key for understanding aging”
• Marguerite Neerman-Arbez, CH “Of Fish and Men – using zebrafish to study rare genetic disorders of hemostasis”
• Marco Tartaglia, IT “RASopathies – The other face of RAS signalling dysregulation”
• Cristina Borralleras Fumaña (Abstract n° C004) “Epigallocatechin gallate effect on a Williams-Beuren syndrome mouse model”

POSTER SESSION B & C 17 to 19

Social event: Speakers Dinner in the Evening

FRIDAY, MARCH 11Th

D. Session, Morning 9 to 12 “Bringing Treatments to the Clinic”

• Juan Bueren, ES “Non targeted and Targeted Gene Therapy Approaches in Fanconi Anemia”
• Josine de Winter on behalf of Coen Ottenheijm, NL “Fast Skeletal Troponin Activation for Restoring Muscle Strength in Mouse Models of Nemaline Myopathy”
• Gert Matthijs, BE “Therapies and treatment for (very) rare and genetically heterogeneous disorders: why (not) CDG?”
• Danilo A. Tagle, USA “Innovative Tools for Drug Development and Disease Modeling”
• Renée Zwanenburg (Abstract n° D003) “Challenges and experiences of conducting a randomized, double-blind, placebo-controlled trial for a rare genetic disorder: Intranasal insulin in Phelan-McDermid syndrome”
• Juan R. Rodriguez-Madoz (Abstract n° D006) “Generation of tools for disease modelling of Primary Hyperoxaluria by cell reprogramming”

Lunch 12 to 13

POSTER SESSION D,E & F 13 to 14

E. Session, Afternoon 13 to 17 “Neurological diseases”

• Giovanni Stevanin, FR “Delving into the complexity of spinocerebellar degenerations, how next generation sequencing improved our knowledge”
• Shimon Edvardson, IL “Rare neurogenetic disorders: the clinicians perspective”
• Julio Montoya, ES “Mitochondrial diseases: state of the art”
• Olaf Horst Riess, DE ” The new role of Medical Genetics in Clinical Guiding”
• Marjo Van der Knaap, NL “Update on leukodystrophies”
• Heike Heuer (Abstract n° E009) “Therapeutic potential of thyroid hormone analogs Triac and Ditpa in Allan-Herndon-Dudley Syndrome”

POSTER SESSION D,E & F 17 to 19

SATURDAY, MARCH 12Th

F. Session, Morning 9 to 12, public session “Patients and research” Session supported by Actelion

• Erica Daina, IT “Rare diseases registries as tools for clinical research”
• Heather Etchevers, FR “Crowdfunding primary rare disease research : bootstraps and biobanks”
• Jan Geissler, DE “The benefits of patient involvement in research and development”
• Virginia Llera, AR “LA&C: Opportunities and Challenges to Rare Diseases Research”
• Conny van Ravenswaaij-Arts (Abstract n° F003) “The power of social media for karyotype-phenotype analysis of rare chromosome disorders”

Program updated March 08, 2016