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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.
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”
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”
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”