The United Mitochondrial Disease Foundation today announced a new $100,000 grant to Madhurima Saha, PhD, of the University of Florida, for research related to Mitochondrial Enoyl CoA Reductase Protein-Associated Neurodegeneration (MEPAN), a rare mitochondrial disease that affects the brain and the nervous system. With these new funds, UMDF has now provided research grants totaling more than $1 million in the last year, spread across 16 labs.
Grant Details
$100,000
Madhurima Saha, PhD
University of Florida
Generously funded by the Solomon Family and Friends Impact Fund and Countdown For A Cure, in honor of Sydney Breslow.
Project Title: Development and Optimization of a Gene Therapy Vector for MEPAN Syndrome
Mitochondrial enoyl CoA reductase protein-associated neurodegeneration (MEPAN) syndrome presents a daunting challenge within the field of rare genetic disorders, with treatment options severely limited. This project includes a thorough investigation into a novel gene therapy approach utilizing adeno-associated virus9 (AAV9) vectors to deliver the MECR gene, whose deficiency leads to MEPAN syndrome. The hypothesis posits that the scAAV9-MECR vector will enable robust expression of MECR protein in crucial neural tissues, including the brain, spinal cord, basal ganglia, olfactory bulbs, and retina, within mouse models. This research aims to uncover MECR gene therapy’s potential for mitochondrial disorders, providing hope for ultra-rare disease interventions. Success will advance gene therapy understanding and future clinical applications for similar challenges.