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Causes: Health, Nerve, Muscle & Bone Diseases
Programs: While the focus of the jain foundation is lgmd2b, 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 is hands on in its 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. Our goal continues to be to fund all possible approaches to a cure and have the patients diagnosed for when we reach a cure so they are able to avail it. Contract research organizations: in 2016 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 knowledge and infrastructure focused on drug discovery, such as robotics and large compound li patient recruitment and diagnosis: lgmd2b is very rare. An important goal of the foundation is to identify lgmd2b patients worldwide. The rarity of the disease, the lack of knowledge regarding the need for genetic analysis on the part of both the patients and physicians, and the high cost of genetic analysis has made this process laborious and costly. To find and diagnose patients we have had to make dramatic changes in our diagnostic process. In 2014 we launched a diagnosis program using new low cost sequencing technology to diagnose not just our specific disease but 34 other similar diseases all at once. Consequently, we have also led the development of a consortium of family foundations that are all interested in finding their patients through our program. This new program has reduced the price of diagnosing each patient by 60% and we are finding 4 times more lgmd2b patients in the same amount of time. At the end of 2015 through this new sequencing program, over 1500 individuals wit