Dr. Plavi Mittal is the former president and CEO of the Jain Foundation, which she led from its inception in 2005 through April 2017 after a family member was diagnosed with dysferlinopathy in 2001. Dr. Mittal had previously earned a Ph.D. in Biology from Brandeis University, did postdoctoral research in molecular oncology at Harvard Medical School, and was a management consultant at a global consulting firm working with leading pharmaceutical companies. She built the Jain Foundation in accordance with the following goals and guiding principles:
(1) Develop an in-house team of dysferlin scientific experts to manage and coordinate research across the dysferlin field, rather than relying on external researchers to propose individual projects. This unique funding model enabled the foundation to target knowledge gaps in the field, facilitate collaborations between researchers, expedite sharing of resources, and recruit experts from related areas into the dysferlin field.
(2) Actively diagnose all dysferlinopathy patients at the genetic level in preparation for clinical trials. The foundation changed the paradigm of LGMD diagnosis multiple times and helped diagnose hundreds of LGMD2B patients who are now registered with the foundation.
(3) Establish and validate assays for dysferlin function and other dysferlin-relevant biomarkers to facilitate drug testing for LGMD2B. Several drugs have already been tested for efficacy using the foundation-developed drug testing platforms.
(4) Lay the groundwork for LGMD2B clinical trials by establishing clinical baselines and biomarkers for dysferlinopathy progression in patients. The foundation designed and conducted a 7-year LGMD2B clinical outcome study of 200 patients at 15 centers in 8 countries worldwide, and the resulting clinical data have enabled pharmaceutical companies to design effective LGMD2B clinical trials. As a result, gene therapy for LGMD2B is now in clinical trials and two additional pharmaceutical companies are also planning clinical trials for LGMD2B, which was a pipe dream when the foundation started in 2005.
Dr. Mittal's sense of personal responsibility for advancing the dysferlin field––together with her unique combination of passion, charisma, and brutal honesty––inspired researchers, patients, physicians, and supporters to become personnally invested in the pursuit of a cure for dysferlinopathy.
While continuing to cheer on the efforts of the Jain Foundation, Dr. Mittal is now bringing the same passion and urgency to a new and complementary endeavor, which will bring free genetic diagnosis to patients across a wide range of rare diseases. She recently launched In-Depth Diagnostics (IDD), a non-profit organization that plans to sequence 100,000 genomes of patients suffering from undiagnosed neurological conditions, including all forms of LGMD, through a platform that is free to the patient. In addition to shortening the diagnostic odyssey for these patients, the resulting resource of genomic and clinical data (consented and de-identified) will help spur research and development in hundreds of rare neurological conditions.
Find out more about IDD here: www.indepthdiagnostics.org.