Funding nearly $15 million in research – research that is often underfunded but critical to the diagnosis and treatment of patients with mitochondrial disease – that’s the legacy of the UMDF research grant program. James Stewart, PhD received a UMDF research grant in 2013 for his work, “Using mtDNA mutator mouse-derived lineages to generate mouse models of human mitochondrial diseases.” His mouse models have been used to improve the understanding mitochondrial disease transmission and in testing potential therapies.

We recently caught up with Dr. Stewart, now with the Biosciences Institute, part of the Faculty of Medical Sciences at Newcastle University in the UK. An article on his work and that of his colleagues was published this February 2023 in Cell. (Click here to read the full article.)  

The mice they’ve generated have been used to study the transmission of mitochondrial DNA mutations and disease expressions. Additionally, other researchers have been working on new ideas to manipulate the mitochondrial DNA and see if it successfully changes the state of the affected mice.

When Dr. Stewart started his work, he remarked that all the focus for mitochondrial medicine was on diagnostics. In the next ten years or so, he’s hoping — now that we understand so much more about the mitochondria and mitochondrial diseases — that not only will a patient be diagnosed with a mitochondrial disease, but that “maybe we can actually fix it.”

At the time in 2013, it was incredibly difficult to receive funding to generate animal models. Dr. Stewart is grateful that UMDF’s peer reviewers, donors, fundraisers and patient community would see the critical importance of his work.