As part of our new advocacy project dedicated to facilitating bidirectional awareness between researchers and people living with dysferlinopathy, we hosted a live virtual lab tour. The event was well received and energizing with approximately 90 members of the Dysferlin Registry from 19 countries joining Pam Van Ry, Ph.D. for a live virtual lab tour and to hear highlights from her research at the forefront of investigating novel therapeutic approaches for dysferlinopathy. Dr. Van Ry is an Associate Professor in the Department of Chemistry and Biochemistry at Brigham Young University in Provo, Utah. She has collaborated with the Jain Foundation since 2020. During the live virtual event, Dr. Van Ry provided an inside look at her lab, showcasing how her team uses the laboratory space and equipment in their dysferlin research. She and her team also discussed their current project which is focused on the hypothesis that recombinant human Galectin-1 may have multiple beneficial effects on disease-affected muscles and could eventually be advanced as a treatment option for dysferlinopathy. The session ended with Q&A, addressing questions submitted by the audience regarding challenges in translating lab results to viable therapies, regulatory hurdles, experimental processes and next steps for human clinical trials. Stay tuned as we plan future opportunities for Jain Foundation Dysferlin Registry members to learn more from leaders in dysferlin research. For more information about the Dysferlin Registry and becoming a member- https://www.jain-foundation.org/patients-clinicians/how-to-take-action/dysferlin-registry/ (fb)

Limb Girdle Muscular dystrophy is marked by progressive muscle fiber loss. This muscle death leads to replacement by fibrotic and fatty tissue, resulting in muscle weakness and disability. Early and accurate diagnosis is crucial for effective care planning, therapeutic options and informed genetic counseling. Muscle MRI has become a valuable tool for early diagnosis by identifying different patterns of muscle involvement. However, these patterns are complex, making interpretation difficult and limiting its clinical utility. Recently one of our Jain Foundation collaborators published their work on developing an AI-driven diagnostic tool to support clinicians in detecting disease-specific muscle involvement patterns. The group developed a new computational AI analysis tool trained on 20 different diseases and 2961 curated muscle MRI scans. We are pleased that our collaborators were able to use Jain COS consortium data of dysferlinopathy patients in the development of this project. Congrats and many thanks for all the colleagues for developing a new computational approach to help clinicians diagnose NMDs and LGMDs. The published paper is available- https://onlinelibrary.wiley.com/doi/10.1002/jcsm.13815 Check out @JF’s current project with the lead authors here that strives to further enhance our understanding of dysferlinopathy https://www.jain-foundation.org/active-clinical-projects/identifying-prognostic-biomarkers-in-a-large-cohort-of-patients-with-dysferlinopathy/ (fb)