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15th UK Neuromuscular Translational Research Conference 2022 (online event)
26 and 27th April 2022
Attracting in excess of 300 basic scientists and clinical scientists involved in neuromuscular disease research, the event was designed as a scientific meeting to promote and share cutting edge clinical and scientific advances in the neuromuscular field, and to encourage new research and collaborations. The event included invited guest lectures with Q&A, research posters, and flash presentations from early career scientists.
Programme for 2022 included:
Transcript Imbalance in Charcot-Marie-Tooth Disease: Validating Causes and Consequences
Professor John Svaren, Director, IDD Models Core, University of Wisconsin-Madison
Applying and integrating genomic and transcriptomic technologies to the diagnosis of rare neuromuscular disease.
Dr Vijay Ganesh, Broad Institute
The relevance of Smart Technologies for patient reported outcomes/remote assessments
Dr Elin Haf Davies, CEO, Aparito
Rare disease research in Europe and beyond – why the UK must continue to collaborate
Victoria Hedley, Rare Disease Policy Manager, Newcastle University
Therapeutic Approaches for FSHD
Professor Scott Harper, Center for Gene Therapy, Nationwide Children’s Hospital // Ohio State University College of Medicine
Application of omics-technologies in congenital myopathies
Dr Jim Dowling, Senior Scientist, Genetics & Genome Biology, Hospital for Sick Children (Sick Kids) Toronto/ University of Toronto
Implementing the UK Rare Diseases Framework
Dr Louise Wood CBE. Director: Science, Research & Evidence, Deputy CEO - National Institute for Health Research, Department of Health and Social Care
Novel omics and technological advances in mitochondrial medicine
Dr David J. Pagliarini, BJC Investigator and the Hugo F. and Ina C. Urbauer Professor of Cell Biology & Physiology, Biochemistry & Molecular Biophysics, and Genetics. Washington University in St. Louis School of Medicine
Conference programme:
