Programme

25.01.2018
26.01.2018
27.01.2018

11:45 - 12:30	LUNCH
12:30 - 13:45	WELCOME
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	BREAK
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	BREAK
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	LUNCH
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	BREAK
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 Faculty: Bart Bartels Physiotherapist Professor Katarzyna Kotulska-Jóźwiak Paediatric neurologist Professor Francesco Muntoni Paediatric neurologist Inge Schwersenz Patient advocacy group representative Moderator: 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	BREAK
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	Conclusion Summing-up - Prof. Francesco Muntoni, University College London, UK
13:00 - 13:30	Closing ceremony
13:30 - 15:00	LUNCH