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THURSDAY September 7


3:00‐5:00 Conference Check-In and Poster Board Set Up Governor General Room and Foyer
5:00 Opening Remarks

Robin J. Parks, PhD
Co-Director, The Dr. Eric Poulin Centre for Neuromuscular Disease
Senior Scientist, Ottawa Hospital Research Institute, CA
Professor, University of Ottawa, CA

Jodi Warman Chardon, MD
Co-Director, The Dr. Eric Poulin Centre for Neuromuscular Disease, CA
Associate Professor, University of Ottawa, CA
Neurologist, The Ottawa Hospital/CHEO, CA
Associate Scientist, Ottawa Hospital Research Institute, CA
Scientist, Children’s Hospital of Eastern Ontario Research Institute, CA
Confederation Room I and Provinces Room
5:30‐6:30 Keynote Session

Moderators:
Rashmi Kothary, PhD
Senior Scientist and Deputy Scientific Director, Ottawa Hospital Research Institute, CA
Professor, University of Ottawa, CA

Bernard Jasmin, PhD
Dean and Professor, Faculty of Medicine, University of Ottawa, CA

Remarks from: Stacey Lintern, MBA, CHE
Chief Executive Officer, Muscular Dystrophy Canada, CA

Remarks from: David Taylor, PhD
VP Research & Strategic Partnerships, ALS Society of Canada, CA

Keynote Speaker Introduction by:
Michael Rudnicki, PhD
Senior Scientist, Ottawa Hospital Research Institute, CA
Professor, University of Ottawa, CA
Scientific Director, Stem Cell Network, CA

Keynote Address:
Helen Blau, PhD
Donald E. and Delia B. Baxter Foundation Professor, US
Director, Baxter Laboratory for Stem Cell Biology, Stanford University, US
Confederation Room I
6:30‐8:00 Welcome Reception TwentyTwo 22nd Floor, Westin

Keynote Address

Helen M. Blau, PhD
Donald E. and Delia B. Baxter Foundation Professor
Director, Baxter Laboratory for Stem Cell Biology Stanford University

Regenerating and Rejuvenating Neuromuscular Function by Targeting a Gerozyme


Helen M. Blau, Ph.D. is the Donald E. and Delia B. Baxter Foundation Professor and Director of the Baxter Laboratory for Stem Cell Biology at Stanford University. Dr. Blau was born in London and is a dual citizen of the United States and Great Britain. She earned a B.A. from the University of York, England and an M.A. and Ph.D. from Harvard. After a postdoctoral fellowship in the Departments of Biochemistry and Biophysics and the Division of Medical Genetics at the University of California, San Francisco, she joined the faculty at Stanford.

Dr. Blau is world-renowned for her early work on nuclear reprogramming and demonstration of the plasticity of cell fate using cell fusion. Her lab has embraced multidisciplinary approaches to characterize the potent muscle stem cell (MuSC) population that is poised to repair muscle throughout life. Blau’s innovation has led to 20 patents, garnered an NIH MERIT Award, an NIH Director’s Transformative Research Award, an NIH EUREKA Grant for Exceptionally Innovative Research, and generous funding from the Li Ka Shing Foundation and the Milky Way Foundation. A major emphasis of her work is to promote healthspan through rejuvenation of muscle stem cells and tissues. A hallmark of her work is the development of interdisciplinary technologies that enable novel fundamental insights.

Dr. Blau’s lab recently made the striking discovery that aged muscle stem cells and tissues can be rejuvenated and neuromuscular connectivity and muscle strength increased by targeting a single enzyme, 15-PGDH, the Prostaglandin E2 degrading enzyme, which she termed a gerozyme, a pivotal molecular determinant of aging. These findings hold promise for translation to the clinic to augment strength in patients with heritable neuromuscular dystrophies, disuse atrophy, and sarcopenia. Dr. Blau is a member of the Board of Directors and program committee of ISSCR. She is an elected member of American Academy of Arts and Sciences, American Association for the Advancement of Science, American Institute for Medical and Biological Engineering, Pontifical Academy of Sciences, National Academy of Medicine, and National Academy of Sciences.


FRIDAY September 8


7:15‐8:00 Breakfast / Poster Viewing Governor General Room
8:00‐10:00 Session 1 Joint Session: Transformative Technologies in Neuromuscular Disorders
Moderators: Robin Parks, PhD and Jodi Warman-Chardon, MD/PhD
Michael Benatar, MD/PhD Pre-Symptomatic ALS: From Characterization to Prevention
Dwi Kemaladewi, PhD Therapeutic genetics and disease modeling in congenital muscular dystrophy
Stephan Züchner, MD/PhD The continued promise of genomic technologies and software in neurogenetics
Carsten Bönnemann, MD Childhood ALS and the 6th Sense: New SPT and PIEZO2 related syndromes
Confederation Room I and Provinces Room
10:00‐10:30 Coffee Break / Poster Viewing Governor General Room
10:30‐12:00 Session 2A Clinical: Motor Neuron Disease Pathogenesis and Treatment
Moderator: Ari Breiner, MD
Giorgia Querin, MD/PhD Innovative treatments in NMD: the beginning of a new era?
Hugh McMillan, MD Gene therapy in spinal muscular atrophy
Suma Babu, MBBS, MPH Changing landscape of therapeutic development in ALS
Panel Discussion
Provinces Room
10:30‐12:00 Session 2B Basic: Advances in Muscle Stem Cells and Development
Moderator: Aymeric Ravel-Chapuis, PhD
Natasha Chang, PhD Muscle stem cell dysfunction in Duchenne muscular dystrophy
Laurent Schaeffer, PhD The histone variant H2A.Z is required for DNA repair in muscle fibers and prevents premature aging
Melissa Spencer, PhD Optimization of a gene editing platform for Duchenne Muscular Dystrophy
Short Talk: Andreas Roos Bi-allelic variants of FILIP1 cause congenital myopathy, dysmorphism and neurological defects
Confederation Room I
12:00‐1:30 Lunch Break / Poster Viewing Governor General Room
1:00-1:30 Lunchtime 3 Minute Flash Talks

Moderator: Michael De Lisio, PhD
  1. Ryan Marks CRISPR-mediated correction of small duplications/deletions in DMD using an engineered Cas9
  2. Adrien Rihoux Unravelling Myoblast Potential: A Breakthrough in CRISPR/Cas9 Efficiency
  3. Ethan Wedge Practice patterns of newborn screen identified infants with spinal muscular atrophy in the United States
  4. Matthew Triolo Protein glutathionylation is regulated by mitochondrial fragmentation to facilitate muscle stem cell function
  5. Yetrib Hathout A multi-cohort monitoring biomarker effort for Duchenne muscular dystrophy
Confederation Room I
1:30‐3:00 Session 3A Clinical: Muscular Dystrophies – Treatment and Pathogenesis
Moderator: Hanns Lochmüller, MD/PhD
Gerald Pfeffer, MD/PhD Transcriptomic profiles and pathologic correlation in adult-onset myopathies
Katherine Mathews, MD Clinical trial design in pediatric NMD
Rabi Tawil, MD FSHD: Pathogenesis and Potential Treatment
Panel Discussion
Provinces Room
1:30‐3:00 Session 3B Basic: Challenges and Opportunities in Amyotrophic Lateral Sclerosis
Moderator: Maxime Rousseaux, PhD
Richard Robitaille, PhD Glial cells at the neuromuscular junction as a therapeutic target in ALS
Justin Ichida, PhD Identification of new therapeutic targets for ALS using patient stem cells
Janice Robertson, PhD Shedding Light on C9orf72 Loss of Function in ALS and FTD
Short Talk: Lea Lescouzères Calpastatin compensation restores neuromuscular dysfunction in a genetic model of C9orf72 ALS
Confederation Room I
3:00‐4:00 Poster Session (Odd Numbers) - Coffee/Snacks Governor General Room
4:00‐5:30 Session 4A Clinical: Myasthenia Gravis and Neuromuscular Junction Disorders
Moderator: Elizabeth Pringle, MD
Amelia Evoli, MD Diagnostic dilemmas in myasthenia gravis
Gil Wolfe, MD Myasthenia Gravis: The Evolving Therapeutic Landscape
Hanns Lochmüller, MD/PhD Congenital myasthenic syndromes - diagnosis and therapy
Panel Discussion
Provinces Room
4:00‐5:30 Session 4B Basic: Muscle Disease Pathogenesis and Treatment
Moderator: Mireille Khacho, PhD
Maurice Swanson, PhD RNA Signatures in Neuromuscular Disease
Doug Millay, PhD Therapeutic delivery vehicles pseudotyped with the muscle fusogens
Pier Lorenzo Puri, MD Muscle-resident cell type response to sciatic nerve injury
Short Talk: Nicolas Dumont Clearance of defective muscle stem cells by senolytics reduces the expression of senescenceassociated secretory phenotype and restores myogenesis in myotonic dystrophy type 1
Confederation Room I
5:30‐7:00 Informal Poster Viewing and Cocktail / Networking Reception Governor General Room

SATURDAY September 9


7:15‐8:00 Breakfast / Poster Viewing Governor General Room
8:00‐9:30 Session 5A Clinical: Imaging and Genomics in Neuromuscular disease
Moderator: Hugh McMillan, MD
Jodi Warman-Chardon, MD Muscle Imaging in Genetic and Autoimmune Muscle Diseases
Hernan Gonorazky, MD MRI in the age of Artificial Intelligence
Conrad (Chris) Weihl, MD/PhD Gene identification and resolution in hereditary muscle disease
Panel Discussion
Provinces Room
8:00‐9:30 Session 5B Basic: Translational Research in Spinal Muscular Atrophy
Moderator: Rashmi Kothary, PhD
Umrao Monani, PhD New mechanisms underlying the disease-mitigating effects of a spinal muscular atrophy modifier
Thomas Gillingwater, PhD Is SMA a developmental disorder?
Charlotte Sumner, MD The challenge imposed by developmental pathology in SMA
Short Talk: Christiano Alves Base editing as a genetic treatment for spinal muscular atrophy
Confederation Room I
9:30‐10:30 Poster Session (Even Numbers) - Coffee/Snacks Governor General Room
10:30‐12:00 Session 6A Clinical: Advances in Autoimmune and Genetic Myopathies
Moderator: Jocelyn Zwicker, MD
Craig Campbell, MD Duchenne Muscular Dystrophy Episignature
Craig Zaidman, MD Early Experience and Challenges in Gene Therapy in DMD
Olivier Benveniste, MD/PhD Treatment Options for Inflammatory Myopathies
Panel Discussion
Provinces Room
10:30‐12:00 Session 6B Basic: Mitochondrial Disorders
Moderator: Mary-Ellen Harper, PhD
Mireille Khacho, PhD Impact of Mitochondrial Dynamics on Muscle Stem Cell Function: Insights from Physiology, Diseases and Ageing
Marco Sandri, PhD Understanding the Mitochondria to Nucleus signaling
Rita Horvath, MD/PhD The role of mitochondria in neuromuscular diseases
Short Talk: Romane Idoux Unraveling the pathophysiology of Bethlem Myopathy using a unique zebrafish model for the disease
Confederation Room I
12:00‐1:30 Lunch Break / Poster Viewing Governor General Room
1:00-1:30 Lunchtime 3 Minute Flash Talks
Moderator: Keir Menzies, PhD
  1. Philip McGoldrick Loss of C9orf72 affects crucial aspects of nucleocytoplasmic transport processes, which can contribute to TDP-43 mislocalization in ALS
  2. Kaiyue Ma Using Saturation Mutagenesis-Reinforced Functional Assays (SMuRF) to improve the variant interpretation for alpha-dystroglycan glycosylation enzymes
  3. Hailey Hermann Recombinant human Laminin-111 restores adhesion-signaling complexes in a mouse model of LAMA2-CMD
  4. Neena Lala-Tabbert Myocyte-secreted TWEAK promotes myoblast fusion during muscle regeneration
  5. Sally Spendiff Investigating muscle specific kinase agonist antibody treatment for Agrn Congenital Myasthenia Syndromes
Confederation Room I
1:30‐3:00 Session 7A Clinical: Advances in Clinical Autoimmune and Genetic Neuropathies
Moderator: Pierre Bourque, MD
Kerri Schellenberg, MD Clinical Updates in Spinal Bulbar Muscular Atrophy
Rami Massie, MD Update in autoimmune neuropathies
Vera Fridman, MD Diagnosing Non-CMT Inherited Neuropathies
Panel Discussion
Provinces Room
1:30‐3:00 Session 7B Basic: Molecular Insights into Myopathies
Moderator: Nadine Wiper-Bergeron, PhD
Jeffrey Dilworth, PhD Muscle stem cell activation in an inflammatory environment
Gisèle Bonne, PhD Insights in the pathophysiological mechanisms of striated muscle Laminopathies
Silvère van der Maarel, PhD FSHD: D4Z4 rearrangements causing misexpression of DUX4 in skeletal muscle
Short Talk: Katelyn Daman An innate immune cell/FSHD muscle xenograft model to investigate the role of complement in FSHD muscle pathology
Confederation Room I
3:00‐3:30 Coffee Break / Poster Viewing Governor General Room
3:30‐5:00 Session 8 Joint Session: Future Directions in Neuromuscular Research
Moderators: Robin Parks, PhD and Jodi Warman-Chardon, MD
Elizabeth McNally, MD/PhD Modifiers for muscular dystrophy
Annemieke Aartsma-Rus, PhD The future of exon skipping for Duchenne muscular dystrophy
Rafael Yáñez-Muñoz, PhD Overcoming challenges of viral vector delivery to the CNS
Confederation Room I
5:00 Closing Remarks
Robin Parks, PhD and Jodi Warman-Chardon, MD
Confederation Room I