Plum-Based Foundation Awards More Than $500,000 Toward Mitochondrial Disease Research

The United Mitochondrial Disease Foundation—based in Plum—has awarded a half of a million dollars to five researchers whose projects could lead to a cure or better treatment for mitochondrial disease. 

The research grant awards were presented on Friday at the UMDF’s annual symposium, “Mitochondrial Medicine 2011: Chicago,” which was held at the Renaissance Schaumburg Convention Center Hotel in Schaumburg, IL.

This year’s awards bring the total of amount of UMDF funded research to nearly $8 million since 1996. The UMDF is the largest, non-governmental contributor of grants focused on mitochondrial disease research, according to foundation officials.

Mitochondrial disease is the result of failures or defects within mitochondria, which produce 90 percent of the energy required for the body to function and are the "power plants" of each cell in the body.

In 2011, the foundation received 119 letters of inquiry from the scientific and medical community seeking funding for their proposed research projects. The UMDF Grant Review Committee asked for full proposals of 31 of the projects and picked the top five that seemed to  provide the most promising research towards the diagnosis, treatment and ultimate cure of mitochondrial disease.

“We are pleased that we can provide this much money towards research that will hopefully lead to a cure for mitochondrial disease," said Charles Mohan Jr., CEO/Executive Director of UMDF. "It is truly our mission to support those affected by this devastating disease and find a cure for it.”

Here is a list of th is year's grant recipients, a brief description of their projects and the award amounts:

• The Chairman’s Award—$120,000 for two years—was awarded to Brett Kaufman, PhD, Department of Animal Biology at the University of Pennsylvania in Philadelphia. His research, “Regulatory mechanisms governing TFAM-mediated mtDNA copy number control,” could lead to therapies that would increase the number of copies of normal mitochondrial DNA in patients with specific types of mitochondrial disease.
• The Chairman’s Award—$120,000 for two years—was awarded to Nicola Brunetti-Pierri, MD, Telethon Institute of Genetics and Medicine at Fondazione Telethon in Rome, Italy. He is seeking safe and effective treatments for a genetic condition that causes deficiencies of an important enzyme in the energy pathway of mitochondria through his research, “Therapeutic Interventions for Pyruvate Dehydrogenase Deficiency.”
• The Grant Award—$100,000 for two years—was awarded to Miguel Garcia-Diaz, PhD, Department of Pharmacological Sciences at Stony Brook University in Stony Brook, NY. He will study the regulation of mitochondrial transfer RNAs—molecules that are intrinsic to synthesis of the energy metabolism enzymes in mitochondria—in his research, “Deficiencies of tRNA maturation and the pathogenesis of mitochondrial diseases.”
• The Grant Award—$80,000 for two years—was awarded to Ying Dai, MD, PhD, Department of Neurology at Beth Israel Deaconess Medical Center in Boston, Mass. He hopes to develop a mechanism whereby mitochondria with abnormal mutated mitochondrial DNA will be eliminated from cells, with the goal of restoring normal function through his research, “Driving Selection Against Heteroplasmic Mitochondrial DNA Mutations by Enhancing Mitophagy.”
• The Grant Award—$80,000 for two years—was awarded to Katie Clark, PhD, Department of Zoology at Oregon State University in Corvallis, Ore. Her research, “Identifying genes that prevent mitochondrial DNA deletions: a high-throughput approach using Caenorhabditis elegans,” will provide insight into the mechanisms responsible for mitochondrial DNA deletion, a major cause of mitochondrial disease.

About the United Mitochondrial Disease Foundation
Founded in 1996, the 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. For more information about the foundation, see www.umdf.org. The foundation is located at 8085 Saltsburg Road, Suite 201, in Plum.