Queen Square Centre for Neuromuscular Diseases


UK Neuromuscular Translational Research Conference 2022

15th UK Neuromuscular Translational Research Conference 2022  (online event)

26 and 27th April 2022

How to join this event: registered delegates will be sent a joining link to their email inbox in the 24 hours before the event.

Registered delegates will also receive a separate link to the online posters, brochure, and other conference info.

Conference lecture theatre photo

Attracting in excess of 300  basic scientists and clinical scientists involved in neuromuscular disease research, the 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.

Programme for 2022 includes:

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

Abstract Submission Instructions (deadline 10 Jan 2022 12 noon)

Neuromuscular Translational Research Conference 2022 cover image.jpg


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 a 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


We would like to hear from organisations interested in sponsoring this event. Please contact cnmd.contact@ucl.ac.uk

Conference programme:

Sponsor Logos