THE JAIN FOUNDATION INC

Clinical Trial readiness and Community Engagement ($246,298): Dysferlinopathy is very rare. An important goal of the Jain Foundation is to prepare the dysferlinopathy patient community for clinical trials. There are many aspects to being clinical trial ready, including patient identification, community engagement, patient education, and identification of outcome measures. For patient identification we have a patient registry called the Dysferlin Registry that contains 1200+ individuals verified to have dysferlinopathy. In addition, we have a diagnosis pipeline that provides access to genetic testing for those who need it and ensures that barriers to genetic testing dont prevent people with dysferlinopathy from accessing the Dysferlin Registry. In 2024, we added ~ 80+ dysferlinopathy patients to the registry. Community engagement and education includes interactions with the patient community, clinicians, LGMD advocacy groups, Industry and the FDA. Our patient education and engagement ef

Tools for Researchers ($257,622): As a recognized leader in the field, we continue to receive queries and help researchers access reagents such as antibodies and cell lines that are required for their research. In addition, we actively identify and fund the development of research tools and resources needed to advance the dysferlin field. The Jain Foundation is committed to developing and providing frequently required reagents, the availability of which helps accelerate research. We contributed dysferlin DNA to public repositories and have helped companies develop antibodies to dysferlin so that they can be easily obtained. We built a library of cell lines that are useful to study dysferlin deficiency. In 2024, we continued to maintain large colonies of mice at the custom mouse breeding facility at Jackson Laboratories (USA) and Ozgene ARC (Australia) for use in dysferlin research. Information about these resources is disseminated to researchers through e-mails and through the Foundati

Dysferlin Conference ($275,104): The 2025 Dysferlin Conference brought together over 100 scientists, clinicians, industry leaders, advocacy, and patients working to understand and develop a therapy for Dysferlinopathy. The objective of the 2025 Dysferlin Conference, that was held May 8-11, 2024 in Houston, TX, was to speed research on dysferlinopathy through the sharing of ideas and research results on dysferlinopathy. By promoting the sharing of ideas and unpublished data between scientists actively working on dysferlin, scientists can rapidly improve the focus of their research to the most relevant and therapy-oriented areas. During this meeting, all those in attendance gained a deeper understanding of the mechanism of the disease and learned about the progress in testing therapies from the 40+ talks and 24 posters. The conference was sponsored and organized solely by the Jain Foundation