Leigh syndrome is a rare and devastating mitochondrial disorder that typically begins showing symptoms in early childhood, often between three months and two years of age. Affecting approximately 1 in 40,000 individuals, Leigh syndrome breaks down cells in a child’s central nervous system, compromising the brain, spinal cord, and nerves. There is currently no cure. But thanks to relentless families, scientists, and collaborative research efforts, hope is advancing faster than ever before.
One of those family-based organizations is Cure Mito. In 2018, Kasey Woleben and a small group of determined parents of affected children formed Cure Mito, originally named Cure SURF-1, one of the most common mutations causing Leigh syndrome. What began as a desperate response to the diagnosis of their children has become a nonprofit driving patient-led research. “We are trying to find something as quickly as possible to help our kids and slow this disease down,” said Woleben.
One of Cure Mito’s key research partners is the University of Texas Southwestern in Dallas, where the organization has been supporting an ongoing gene therapy initiative. Early in the process, they ran into a common obstacle, a need for patient fibroblast samples. That is when Cure Mito turned to Coriell for a streamlined sample collection process. For rare disease research, delays can be devastating. Having an agnostic biobank like Coriell available to collect, store, and distribute high-quality cell lines gives researchers crucial access to samples.
But the University of Texas Southwestern is not the only partner in this fight against Leigh syndrome. In 2022, researchers from Vanderbilt University used patient-derived samples from Coriell to grow cerebral organoids that revealed specific defects in the development of the cerebral cortex in individuals with Leigh syndrome. This first-of-its-kind study provided unprecedented insight into how mitochondrial dysfunction impacts cell fate and survival. It also delivered detailed phenotypic characterization of Leigh syndrome patient samples that continue to fuel ongoing research. The same cell lines used in the Vanderbilt study remain available today through Coriell’s NIGMS biobank for other scientists to continue using to advance critical research.
Since the founding of the NIGMS Human Genetic Cell Repository in 1972 at Coriell, this biobank has been home to some of the world's most important cell lines, representing a variety of disease states, chromosomal abnormalities, and many distinct human populations. Presently, samples from Coriell’s biobanks are widely used by genetic testing labs around the world and serve as important reference materials, ensuring that these labs’ results are accurate and useful for the patient communities that they serve. Coriell is also home to four other NIH-funded biobanks, distributes thousands of samples every year, and offers world-class research and biobanking services to scientists around the globe.
To learn more about our biobank collections, visit coriell.org/1/Browse/Biobanks.
