Animal models, fibroblasts, and other bio samples that are instrumental for conducting research on Leigh syndrome. We strongly encourage researchers to utilize this information to propel their studies and deepen our understanding of Leigh syndrome.
Some of the resources listed on this page are funded by Cure Mito, while others are not. Our aim is to provide researchers with access to as comprehensive a range of resources as possible. If you are aware of any resources not currently included here, please contact us at info@curemito.org so we can add them.
Research projects spearheaded by Cure Mito are made possible through the generous donations of patient families. We invite all interested families to get in touch and explore how they can contribute and get involved.
Blood samples
Cure Mito is collaborating with Combined Brain to create a biorepository of blood samples for all mutations of Leigh syndrome. More information is coming soon!
Yeast models
Cure Mito is collaborating with Perlara on yeast-powered drug repurposing screens for SURF1 Leigh Syndrome
Learn moreBrain organoids, iPSCs, Yeast models
References:
Rat
SURF1, Knockout
Cure Mito funded the development of a SURF1 KO rat model with UT Southwestern. It is currently under characterization. Findings to come.
Mouse
SURF1, Knockout
References:
RNA samples
SURF1, ECHS1, MT-ATP6
Cure Mito partners with Unravel - Unravel's rareSHIFT project uses home RNAseq kits to drive global patient participation in drug discovery, leveraging AI to stratify patient data, predict treatments, and accelerate clinical trials.
Learn moreMouse
Slc25a46, Nonsense mutation
(ENU mutagenesis)
Dog (Alaskan Husky)
SLC19A3, Homozygous c.624 insTTGC, c.625 C>A
Dog (Yorkshire
terrier)
SLC19A3, Homozygous c.205_210delins35
More information
A review by Dr. Alessandro Prigione and team summarizes the established disease models of Leigh syndrome and their key findings.