11:45 - 12:30


12:30 - 13:45


13:45 - 14:30

Keynote lecture

Where have we come, where do we go?
Arthur Burghes, PhD, Ohio State University, USA 
14:30 - 15:30

Session I

14:30 - 15:00 SMN function importance in the context of this new era - Basic function in splicing: RNA-mediated mechanisms of Spinal Muscular Atrophy 
Livio Pellizzoni, PhD, Columbia University, USA 
15:00 - 15:15 Unfolding the role of SMN protein in controlling translation in vivo: implications for Spinal Muscular Atrophy 
Gabriella Viero, PhD, Institute of Biophysics, CNR Unit at Trento, Italy 
15:15 - 15:30 Splicing analysis in a zebrafish model for Spinal Muscular Atrophy identifies transcripts important for motor neuron and Schwann cell function 
Shermaine Tay, BSc, National University of Singapore, Singapore 
15:30 - 16:00


16:00 - 17:30

Session II

16:00 - 16:30 Neuronal-specific function of SMN: Altered Axonal Actin Dynamics in Spinal Muscular Atrophy 
Michael Sendtner, MD, PhD, University of Wursburg, Germany 
16:30 - 16:45 Converging mechanisms of p53 activation underlie selective degeneration of motor neurons in SMA
Christian Simon, PhD, University of Leipzig, Germany 
16:45 - 17:00 Defining Conserved Gene Networks Affected in Spinal Muscular Atrophy using Drosophila model 
Taka Yokokura, PhD, Okinawa Institute of Science and Technology, Japan 
17:00 - 17:15 Neuronal activity regulates DROSHA via autophagy in Spinal Muscular Atrophy 
Min Jeong Kye, PhD, University of Cologne, Germany
17:15 - 17:30 Temporal and tissue variability of SMN protein levels in mouse models of SMA 
Ewout Groen, PhD, University of Edinburgh, UK  
17:30 - 19:00

Poster Session A, Seminar Room

19:00 - 21:30

RECEPTION at the Conference Centre Auditorium Maximum

08:00 - 09:00 Industry Symposium: NOVARTIS
09:00 - 10:30

Session III

09:00 - 09:30 SMA as a systemic disease 
Charlotte Sumner, MD, PhD, John Hopkins Medical Institute, USA 
09:30 - 09:45 SMN around the clock: circadian dysregulation in SMA 
Melissa Bowerman, PhD, University of Keele, UK 
09:45 - 10:00 The development of heart defects in a mouse model of severe SMA 
Simon Parson, PhD, University of Aberdeen, UK 
10:00 - 10:15 Abnormal fatty acid metabolism is a feature of spinal muscular atrophy  
Rashmi Kothary, PhD, Ottawa Hospital Research Institute, Canada 
10:15 - 10:30 Identification and evaluation of new biomarkers for SMA – skeletal muscle and mitochondrial deficits 
Nicole Hellbach, PhD, F. Hoffmann-La Roche Ltd 
10:30 - 11:00


11:00 - 12:30

Session IV

11:00 - 11:30 Modifiers of phenotype (Protective modifiers help to unveil the cellular mechanism and to develop combinatorial therapies in spinal muscular atrophy) 
Brunhilde Wirth, PhD, University of Cologne, Germany
11:30 - 11:45 CHP1 Reduction Ameliorates SMA Pathology by Restoring DNM1 Hyperphosphorylation and Endocytosis 
Eva Janzen, MSc, University of Cologne, Germany 
11:45 - 12:00 Improvement of synaptic transmission at the NMJ in a mouse model of Spinal Muscular Atrophy 
Rocio Tejero, PhD, University of Seville, Spain 
12:00 - 12:15 Comparison of independent screens on differentially vulnerable motor neurons reveals alpha-synuclein as a common modifier in motor neuron diseases 
Lyndsay Murray, University of Edinburgh, UK 
12:15 - 12:30 RNA-Seq and Motif Analysis of Human Motor Neurons Reveals a Critical Role of SMN/SYNCRIP complex and Motif 7 in Spinal Muscular Atrophy. 
Stefania Corti, MD, PhD, University of Milan, Italy 
12:30 - 14:00


13:00 - 14:00 Industry Symposium: AVEXIS, Medium Hall AB
Gene Replacement Therapies for Monogenic Diseases, with focus on Spinal Muscular Atrophy
Dr. Samiah Al-Zaidy
14:00 - 15:30

Session V

14:00 - 14:30 Pre-clinical combined therapies; Combinatorial opportunities with splice-switching ASOs in SMA 
Christian Lorson, PhD, University of Missouri, USA  
14:30 - 14:45 Combinatorial ASO therapy using SMN-dependent and SMN-independent protection -NCALD reduction - against SMA 
Laura Torres-Benito, PhD, University of Cologne, Germany 
14:45 - 15:00 Targeting the 5’UTR of survival motor neuron 2 (SMN2) to increase its expression in a disease model of spinal muscular atrophy 
Audrey Winkelsas, BSc, National Institutes of Health, USA & University of Oxford, UK
15:00 - 15:15 Dysregulated Signaling in SMA: from isolated pathway approaches to a clustered network representation 
Niko Hensel, PhD, Hannover Medical School, Hannover, Germany  
15:15 - 15:30 Improved in vitro models of the human blood-brain barrier (BBB) using endothelial cells derived from induced pluripotent stem cells (iPSCs) for testing CNS therapeutics 
Jamuna Selvakumaran, PhD, Royal Holloway, University of London, UK 
15:30 - 16:00


15:30 - 17:30

Poster Session B, Seminar Room

16:30 - 17:30

Parallel workshops

European collaboration
Moderated by Prof. Enrico Bertini, IRCCS Ospedale Pediatrico Bambino Gesù, Italy, and Dr. Eduardo Tizzano, Vall d'Hebron Hospital, Spain
Big data & registry
Moderated by Prof. Hanns Lochmuller, Newcastle University, UK
17:45 - 22:00

RECEPTION & DINNER (Faculty dinner)

08:00 - 09:00 Industry Symposium BIOGEN, Main Hall A
A multidisciplinary conversation on the evolving care for patients with SMA
Bart Bartels
Professor Katarzyna Kotulska-Jóźwiak
Paediatric neurologist
Professor Francesco Muntoni
Paediatric neurologist
Inge Schwersenz
Patient advocacy group representative

Vivienne Parry
09:00 - 10:30

Session VI

09:00 - 09:30 Emerging phenotypes & SOCs 
Laurent Servais, MD, PhD, i-Motion, Institut de Myologie, France 
09:30 - 09:45 MRI of the cervical spinal cord and nerve roots in SMA 
Marloes Stam, MD, University of Utrecht, The Netherlands 
09:45 - 10:00 End of Study Results from ENDEAR: Proportions of HINE-2 and CHOP INTEND Responders 
Eduardo Tizzano, MD, PhD, Hospital Vall d´Hebron, Spain 
10:00 - 10:15 Cognitive Development, Language and use of Augmentative Alternative Communication in SMA1 Children in Italy 
Grazia Zappa, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Milan, Italy 
10:15 - 10:30 Clinical challenges in the treatment of spinal muscular atrophy (SMA) with Nusinersen 
Claudia Wurster, MD, University of Ulm, Germany
10:30 - 11:00


11:00 - 12:30

Session VII

11:00 - 11:30 Challenges of clinical trials & beyond (& Benefits of Earlier Treatment With Nusinersen in Infants and Children With Spinal Muscular Atrophy) 
Richard Finkel, MD, Nemours Children’s Hospital, Florida, USA 
11:30 - 11:45 Clinical effects of nusinersen injections in SMA type 1 patients older than 7 months: 10 months of follow up 
Karolina Aragon-Gawinska, MD, i-Motion, Institut de Myologie, France 
11:45 - 12:00 More than just fun and games: ACTIVE workspace volume video game quantifies upper extremity function in individuals with spinal muscular atrophy (SMA) 
Linda Lowes, PT, PhD, Nationwide Children's Hospital, Columbus, USA 
12:00 - 12:15 FIREFISH, a multi-center, open-label trial to investigate the safety and efficacy of RG7916 in babies with Type 1 SMA: Study update and real-life experience of study implementation 
Giovanni Baranello, MD, Carlo Besta Neurological Research Institute Foundation, Milan, Italy 
12:15 - 12:30 A long-term, open-label follow-up study of olesoxime in patients with Type 2 or non-ambulatory Type 3 spinal muscular atrophy who participated in a placebo-controlled Phase 2 trial 
Francesco Muntoni, MD, PhD, University College London, UK 
12:30 - 13:00


Summing-up - Prof. Francesco Muntoni, University College London, UK
13:00 - 13:30 Closing ceremony
13:30 - 15:00


Honorary Patronage





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25–27 January 2018


Auditorium Maximum
Jagiellonian University
ul. Krupnicza 33, 30-001 Kraków