Jain Foundation’s 2024 Dysferlin Conference Awards

The Jain Foundation’s 2024 Dysferlin Conference in Houston in May was a great success for the John Walton Muscular Dystrophy Research Centre this year, with several members of the team being recognised and awarded for their achievements in the field of dysferlinopathy.

Leadership in Collaboration Award

Heather Hilsden is the project manager for the Jain Foundation’s  International Clinical Outcome Study of Dysferlinopathy and has the monumental task of coordinating activities across 16 International clinical centres across 8 different countries. Heather does an amazing job of coordinating activities, consistently pursuing new opportunities to engage clinical partners who can help in Jain Foundation’s mission. Her efforts to connect new researchers and clinicians have been invaluable in accelerating the development of a treatment for dysferlinopathy.

Extraordinary Impact Award

Dr. Meredith James focused her PhD on dysferlinopathy and led the development of the North Star Assessment for Limb Girdle type muscular dystrophies (NSAD). This is a clinical assessment customized  for dysferlinopathy developed from Clinical Outcome Study for Dysferlinopathy (COS). The NSAD has proven to be a more sensitive clinical assessment than other methods allowing for more effective clinical trial designs. The NSAD is now being used to assess other LGMD subtypes. Meredith has an inspiring clinical presence, seeing the whole person before her and enabling her to establish a connection with them. Meredith also trains other physical therapists, ensuring that the latest advancements in care are having maximum impact.

Excellence in Clinical Studies Awards

Prof. Jordi Diaz-Manera has been pivotal in advancing MRI as a diagnostic tool for dysferlinopathy.  His work assessing a huge number of muscle MRI scans has revealed a specific signature of muscle involvement in Dysferlinopathy which can be used to distinguish between different types of neuromuscular disease,  but also may allow us to improve the care of patients by predicting their needs based on which muscles are changing.

Prof. Volker Straub’s leadership of the Clinical Outcome Study (COS) of dysferlinopathy has helped ensure the success of this 16 site, global natural history study for dysferlinopathy. COS has dramatically improved our understanding of dysferlinopathy, has so far resulted in 14 publications and has been influential in clinical trial design for dysferlinopathy and even other LGMDs.

The International Clinical Outcome Study of Dysferlinopathy  is now in its 12^th year led by the John Walton Muscular Dystrophy Research Team. Prof Straub’s Chief Investigator role in COS is supported by the NIHR Newcastle Biomedical Research Centre.