|Founded||September 1, 2005|
|Focus||Dysferlinopathy, LGMD2B, Miyoshi|
|Method||Funding and actively monitoring the progress of scientific research projects in key pathways towards a cure.|
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, and it plays an active role in managing the projects it funds. 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 to enable a rigorous clinical outcome study to measure the clinical progression of dysferlinopathy.
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.
To help address these issues, the Jain Foundation maintains a worldwide registry for all patients who have been diagnosed with dysferlinopathy, supports genetic diagnosis of qualified patients, and works to educate physicians on the importance of genetic testing for their patients. The Jain Foundation also recently introduced the Automated LGMD Diagnostic Assistant (ALDA), a free online tool to help physicians and clinicians diagnose potential LGMD sub-types. A clinical outcome study that began in the fall of 2012 will work to define the best tests for measuring disease progression for use in clinical trials as well as collect accurate details about the full clinical spectrum of the different forms of dysferlinopathy by measuring disease progression.
Funded Research Projects
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.
Research Funding Model
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.
b) An interactive project management process, including direct input into the aims and design of each project, and close communication with funded researchers.
c) Required quarterly updates (in the style of lab meetings) with funded researchers to help them identify and address roadblocks.
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. The 2011 conference took place in Chicago on July 11-14th at the DoubleTree Hilton Magnificent Mile.
- "It's personal: Big business searches for cures". Fortune. 2011-11-10. Retrieved 2014-07-27.
- Liu J, Aoki M, Illa I, et al. (1998). "Dysferlin, a novel skeletal muscle gene, is mutated in Miyoshi myopathy and limb girdle muscular dystrophy.". Nat. Genet. 20 (1): 31–6. doi:10.1038/1682. PMID 9731526.
- "Jain Foundation Steps Up Efforts to Find Cure for Muscular Dystrophy". Genetic Engineering & Biotechnology News. 2013-10-16. Retrieved 2014-07-27.
- Jain Foundation, "Our Funded Projects."
- Jain Foundation, "Reporting Obligations and Sharing Expectations."
- Jain Foundation, "Diagnostic Resources."
- "Clinical Outcome Study for Dysferlinopathy (Jain COS)". ClinicalTrials.gov. 2012-08-28. Retrieved 2014-07-27.
- Nguyen K, Bassez G, Krahn M, et al. (2007). "Phenotypic study in 40 patients with dysferlin gene mutations: high frequency of atypical phenotypes.". Arch Neurol. 64 (8): 1176–82. doi:10.1001/archneur.64.8.1176. PMID 17698709.
- Wicklund MP and Hilton-Jones D. (2003). "The limb-girdle muscular dystrophies: Genetic and phenotypic definition of a disputed entity.". Neurology 60 (8): 1230–1. doi:10.1212/wnl.60.8.1230. PMID 12707421.
- Human Genome Project Information, "Gene Testing."
- Jain Foundation, "Patient Registration."
- "Imposing Order on Muscle Disorders: New Online Tool Accelerates Diagnosis of Muscular Dystrophies". Yahoo! Finance. 2013-11-19. Retrieved 2014-07-27.
- Jain Foundation, "About Us."
- Jain Foundation, "Resource Sharing Network."
- Jain Foundation, "Dysferlin cDNAs."
- Jain Foundation, "Our Dysferlin Research Institute."
- Albrecht DE, Garg N, Rufibach LE, et al. (2009). "3rd Annual Dysferlin Conference 2–5 June 2009, Boston, Massachusetts, USA.". Neuromuscul Disord. 19 (12): 867–73. doi:10.1016/j.nmd.2009.08.005. PMID 19781937.
- Jain Foundation, "Sponsored Conferences."