The recently launched Jefferson MitoCare Center, focused on mitochondrial disease research, recently garnered two prestigious awards and fellowships helping further the goal of finding cures for this set of diseases that most commonly affect the very young, but also may be diagnosed in adulthood.
Erin Seifert, PhD, an Assistant Professor in the Department of Pathology, Anatomy and Cell Biology and a core MitoCare member, recently received a symbolic check for her competitive grant from the United Mitochondrial Disease Foundation from two parents of children with mitochondrial disease who helped raise the money for the Foundation.
“When you are awarded a grant from people who are directly impacted by these diseases, who are personally eager to see what progress you’ve made,” says Dr. Seifert, “It gives our work here an incredible sense of urgency.”
The award took her by surprise, says Dr. Seifert. She attended the conference, which had components for both researchers and patient families, not knowing that she would be the recipient of the award. “It was quite a moving experience.”
The competitive award, for $120,000 over two years, will help further Dr. Seifert’s research on mitochondrial malfunctions that lead to disease. The new award will focus on a very newly described genetic defect that targets a fundamental part of the “powerhouse” machinery of the mitochondria, leading to a large energy deficit in the tissues.
Although some of the affected individuals have died early in infancy, some have overcome early problems and are now fairly healthy. How these individuals can adapt to such a significant problem is a mystery. Unraveling this mystery may suggest treatments to help patients survive the early phase of the disease, and may also shed light on how tissue adaptations can be harnessed to treat other mitochondrial diseases.
In addition to this research award, Melanie Paillard, a postdoctoral fellow in the lab of Dr. Gyorgy Hajnoczky, MD, PhD, the director of the MitoCare Center, received a 2-year fellowship from the American Heart Association.
She received her award to study a mitochondrial protein that controls calcium transport – a critical function for most cells, but especially those of the heart and brain. Dr. Paillard’s project is also directly relevant for a new genetic disease since mutations in this protein have been recently found in humans and linked to muscle and neurological dysfunction.