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The Jain Foundation is a non-profit organization established by Ajit Jain and located in Seattle, Washington, whose mission is to cure muscular dystrophies caused by dysferlin protein deficiency. These dystrophies are collectively termed dysferlinopathy, and include Limb-girdle muscular dystrophy type 2B (LGMD2B) and Miyoshi muscular dystrophy 1 (MMD1). The Jain Foundation funds research projects around the world to better understand and develop therapies for this rare disease,〔( ''Jain Foundation,'' "Our Funded Projects." )〕 and it plays an active role in managing the projects it funds.〔(''Jain Foundation,'' "Reporting Obligations and Sharing Expectations." )〕 In addition to requiring accountability and transparency, the Jain Foundation encourages the sharing of ideas and resources between research teams in order to maximize efficiency and hasten development of a cure for dysferlinopathy.〔 The Jain Foundation also supports diagnosis of dysferlinopathy patients at the genetic level〔( ''Jain Foundation,'' "Diagnostic Resources." )〕 to enable a rigorous clinical outcome study to measure the clinical progression of dysferlinopathy.〔http://www.jain-foundation.org/dysferlinoutcomestudy/goals〕 ==Patient Diagnosis== A major obstacle in finding a cure for dysferlinopathy is the scarcity of patients who have been analyzed genetically and confirmed to have mutations in the dysferlin gene, making it difficult to rigorously characterize the clinical phenotype and progression of dysferlin deficiency, particularly because this disease is so variable. The dysferlin gene is large, which increases the difficulty〔 and cost〔 of dysferlin sequencing. Furthermore, since gene sequencing does not currently affect the clinical management of patients, it is usually not covered by health insurance.〔〔( ''Human Genome Project Information,'' "Gene Testing." )〕 To help address these issues, the Jain Foundation formed a consortium of LGMD family foundations to offer free genetic sequencing for patients with muscular dystrophies and diseases with similar symptoms. Other members of the LGMD Foundation Consortium include the Cecil B Day Family, Inc (LGMD2B), Coalition to Cure Calpain 3 (LGMD2A), Kurt + Peter Foundation (LGMD2C), LGMD2D Foundation, LGMD2I Fund, and the McColl-Lockwood Laboratory (LGMD2I). Patients can apply for free genetic sequencing by taking the quiz at . Eligible patients who live in the United States are then sent a saliva sample collection kit for DNA analysis. This program was later expanded to allow physicians to apply on behalf of their patients using ALDA (Automated LGMD Diagnostic Assistant), which is a free online tool that helps physicians and clinicians diagnose potential LGMD sub-types. 〔http://jain-foundation.org/alda/〕 抄文引用元・出典: フリー百科事典『 ウィキペディア（Wikipedia）』 ■ウィキペディアで「Jain Foundation」の詳細全文を読む スポンサード リンク
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