August 4, 2017

Contact: Clifford Gorski
Director of Communications



(Alexandria, VA)  As part of its Roadmap to a Cure Initiative, The United Mitochondrial Disease Foundation (UMDF) announced it invested a total of $625,000 in 2016-2017 towards the development of diagnostic tools, therapeutic treatments, and patient care.  At its annual symposium, Mitochondrial Medicine 2017, $300,000 in research grants were presented as part of the initiative:

Prashant Mishra, M.D., Ph.D., from the University of Texas Southwestern Medical Center, was presented with the Chairman’s Award.   His project, “Identification of SLC Family Members as Predictive Biomarkers for Mitochondrial Disease”, will investigate the potential use of specific solute carrier (SLC) family members in blood serum as novel predictive biomarkers of mitochondrial disease.  If successful, this approach could serve as a means to improved diagnoses as well as therapeutic development.

The UMDF’s New and Early Principal Investigator Award was presented to Rustum Karanjia, M.D., Ph.D.  Dr. Karanjia’s planned research at the Doheny Eye Center and at the University of Ottawa is entitled “Photopic Negative Response as an Objective Biomarker in Mitochondrial Disease”.   Many forms of mitochondrial disease have eye-related symptoms.  Dr. Karanjia believes his research will validate utilizing Photopic Negative Response as a biomarker for optic nerve function in mitochondrial disease patients.  To test this theory Dr. Karanjia will measure eye cell electrical activity in patients over an 18-month time frame.

Mellisa Anne Walker, M.D., Ph.D. was presented with the UMDF’s Postdoctoral Fellowship Award.   Dr. Walker is based at the Massachusetts General Hospital lab of Dr. Vamsi Mootha.  Dr. Walker is working on the development of a blood test that will measure mitochondrial activity in a patient.  Her preliminary data points to a simple test that can be done as part of a physical exam.  This could lead to a simple and inexpensive diagnostic test.

All three awards were two year grants at $100,000 each.

Additional UMDF Scientific Investments

In addition to the UMDF Research Grant program, an additional $325,000 was allocated this fiscal year toward other scientific investments designed to bring diagnostic tools, therapeutic development and coordinated care to patients.  For example, the UMDF invested $200,000 in further development of the Mitochondrial Disease Community Patient Registry (MDCR).   The registration of patients and capture of their clinical information is critical to the success of the clinical trial process.  Without patient participation, clinical trials cannot proceed and treatments and potential cures are stalled.   Funding provided by the UMDF to MDCR will enable the continued development of a robust global platform where patients, caregivers and family members around the world can safely and securely share their health and genetic information.

The North American Mitochondrial Disease Consortium (NAMDC) received $50,000 in UMDF funding in 2016-2017.     NAMDC was established to create a network of clinicians and clinical investigators in North America who follow sizeable numbers of patients with mitochondrial diseases and are involved or interested in mitochondrial clinical research.  NAMDC has created a clinical registry for patients, in the hopes of standardizing diagnostic criteria, collecting important standardized information on patients, and facilitating the participation of patients in research on mitochondrial diseases.

Since its inception, UMDF has provided funding to NAMDC and has successfully advocated on Capitol Hill to keep NAMDC funded through grants from the National Institutes of Health.

With a strategic goal of funding key biomedical research infrastructure UMDF continued to support at a $75,000 level the Mitochondrial Disease Sequence Data Resource Consortium, also known as MSeqDR.  MSeqDR was launched at the UMDF Symposium in Washington, D.C. in 2012 as a NAMDC pilot project.  It is a global effort to create an international genomic database for the mitochondrial disease community.   This database increases the ability of clinicians to diagnose primary mitochondrial disease and provides them with tools to mine valuable information from many mutations in a secure, confidential atmosphere.   UMDF has also successfully advocated on Capitol Hill for funding for MSeqDR, leading to follow-on grants from the National Institutes of Health (NIH).

UMDF is the largest non-governmental funder of mitochondrial disease research.   With the 2017 Research Grants, funding for MDCR, NAMDC, and MSeqDR, the UMDF has provided close to $12 million to-date in scientific funding for our Roadmap to a Cure.

Funding for the UMDF Scientific Portfolio is provided by the generous contributions of our donors, by those who participate in the Energy for Life Walk and other events, and by those who have created family research funds.


mitochondrial diseases result from the failure of the mitochondria, which are located in the cells of our bodies. Mitochondria are responsible for creating more than 90% of the energy needed to sustain life and support growth. When mitochondria fail, less energy is produced causing cell injury or cell death. On a larger scale, organ systems begin to fail. The disease is often debilitating. In some cases, it may result in death. Adult onset is becoming more and more common. There is no cure for mitochondrial disease.


Founded in 1996, the United Mitochondrial Disease Foundation (UMDF) works to promote research and education for the diagnosis, treatment and cure of mitochondrial diseases and to provide support for affected individuals and families. Since its inception, the UMDF has funded nearly $12 million in research, making it the leading non-governmental contributor of grants focused solely on mitochondrial disease.  For more information about mitochondrial disease or the UMDF, visit