UMDF has teamed up with the Muscular Dystrophy Association (MDA) to co-fund two new research projects to accelerate the development of promising therapies.

Amongst the projects co-funded:

• Mariena D’Aurelio, PhD, Weill Medical College of Cornell University, will receive $299,973 for “Modulating ER stress-induced lipotoxicity to ameliorate mitochondrial myopathy.” This project will investigate how toxic lipid buildup and resulting cellular stress drive muscle dysfunction in mitochondrial myopathy. By testing two therapeutic strategies aimed at reducing lipotoxicity in a mouse model, the study seeks to establish a promising new metabolic target for treatment.
• Alba Pesini Martin, PhD, Columbia University Irving Medical Center, will receive $210,000 for “Investigating MAM domains and neuronal function in Coenzyme Q10 deficiency.” This project will examine how lipid abnormalities linked to CoQ10 deficiency affect neuronal structure and survival. By uncovering how these changes drive neurological symptoms—and identifying potential metabolic targets—the study aims to lay the groundwork for new therapies that can overcome current challenges, including the inability of CoQ10 supplements to reach the brain.

“Collaboration is at the heart of everything we do at UMDF, so working alongside MDA to co-fund mitochondrial disease research aligns perfectly with our mission,” said UMDF’s Science & Alliance Officer Dr. Philip Yeske. “A strong history of attracting high-quality research proposals and a shared commitment to rigorous peer review make MDA an ideal partner in the quest for mitochondrial disease treatments and cures.”