UK Neuromuscular Translational Research Conference

External Event - 26th to 27th Apr 2022

Time: 1pm - 5pm (GMT)

Online Event

Attracting in excess of 200 basic scientists and clinical scientists involved in neuromuscular disease research, this event is 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 will include invited guest lectures with Q&A, research posters, and flash presentations from early-career scientists.


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


Poster and Platform presentations:




This event is open at no cost to delegates who meet one or more of the following criteria: Employed in clinical practice, post-graduate study or post-graduate research in the field of biomedicine in i) the NHS or equivalent overseas health service, or ii) in the UK or overseas higher education research environment

After you have submitted your registration, we may ask you for evidence that you meet the above criteria. If we are unable to establish that you meet the criteria above, we reserve the right to cancel your free registration and not provide you with a log-in to the event

Pharmaceutical companies wishing to register delegates should contact Charities/patient groups wishing to register representatives should contact

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