The Jain Foundation is a non-profit organization located in Bellevue, 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[1] and plays an active role in managing the projects it funds.[2] 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.[2] The Jain Foundation also supports diagnosis of dysferlinopathy patients at the genetic level[3] to enable rigorous natural history analysis of the clinical progression of dysferlinopathy.[4]
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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.[5] The dysferlin gene is large, which increases the difficulty[5][6] and cost[3] of dysferlin sequencing. Furthermore, since gene sequencing does not currently affect the clinical management of patients, it is usually not covered by health insurance.[6][7]
To help address these issues, the Jain Foundation maintains a worldwide registry[8] for all patients who have been diagnosed with dysferlinopathy, supports genetic diagnosis of qualified patients,[3] and works to educate physicians on the importance of genetic testing for their patients.
The Jain Foundation funds basic and translational research that is focused towards understanding and curing dysferlinopathy. The research projects cover a wide range of topics, such as the role of dysferlin in muscle, the pathology of dysferlin deficiency, and approaches to treatment.[3]
The Jain Foundation funds research using a non-traditional funding model, including:
a) An in-house, full-time scientific team to review grant proposals and manage funded projects, as opposed to an external scientific advisory committee.[9]
b) An interactive project management process, including direct input into the aims and design of each project, and close communication with funded researchers.[2]
c) Required bimonthly updates (in the style of lab meetings) with funded researchers to help them identify and address roadblocks.[2]
d) Active efforts to foster collaborations and exchange of resources between funded laboratories.[2][10]
e) Generation and distribution of research tools and reagents, including DNA constructs,[11] antibodies, cell lines, and animal models that are essential for many of these research projects.[1][12]
The Jain Foundation holds an annual conference for researchers and clinicians studying dysferlin. In the past, this event has been held in Bermuda, Puerto Rico, Boston, and Seattle.[13] The 2011 conference took place in Chicago on July 11-14th at the DoubleTree Hilton Magnificent Mile.[14]