Jain Foundation Inc.

While the focus of the Jain Foundation is Dysferlinopathy LGMD2B Miyoshi, the resulting scientific advances and collaboration have a broader impact on human health through their relevance to other muscle disorders, degenerative diseases of tissues other than muscle, and normal aging. The Foundation employs a hands-on approach to funding. We closely monitor progress of every project we fund and keep track of results and agreed upon timelines through quarterly detail oriented conference calls with researchers and site visits. We also support internal programs and initiatives. Our goal continues to be to fund all possible approaches to a cure and have the patients diagnosed for when we identify treatment s so they are able to avail themselves of it. Contract Research Organizations: In 2019 we continued working with Contract Research Organizations CROs as an integral part of our therapy development program. CROs are companies that serve the drug development industry and provide specialized

Expenses: $197K

Clinical Trial Readiness and Community Engagement: Dysferlinopathy is very rare. An important goal of the Jain Foundation is to be as clinical trial ready as possible. There are many aspects to being clinical trial ready including patient identification, community engagement and education, and identification of outcome measures. For patient identification we have a patient registry called the Dysferlin Registry that contains 840+ individuals we have determined are confirmed to have dysferlinopathy. In addition, we have a diagnosis pipeline that provides access to multiple types of testing including genetic sequencing, evaluation of dysferlin protein levels, and RNA sequencing. Data from all these analyses help identify and provide a definitive diagnosis to those with dysferlinopathy and helps us be more clinical trial ready. In 2019, thirty individuals went through our diagnostic program and we added 72 new confirmed dysferlinopathy patients to the registry. Community engagement and ed

Expenses: $259K

JF Dysferlin Conference: The Dysferlin Conference brings together scientist and clinicians working to understand and develop a therapy for Dysferlinopathy. Dysferlinopathy is caused by mutations in dysferlin and is characterized by progressive muscle wasting beginning in the late teenage years. The objective of the 8th Dysferlin Conference, that was to be held March 11-14, 2020 in Orlando, FL, 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 and other relevant therapeutic approaches, scientists can rapidly improve the focus of their research to the most relevant and therapy-oriented areas. During this meeting, Jain Foundation funded researchers were to provide a deep understanding of the mechanism of the disease and present progress in testing therapies. The conference is sponsored and organized by the Jain Foundation but