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Publication: Pathogenic Morphological Signatures of Perturbations in Mitochondrial-Related Genes Revealed by Pooled Imaging Assay

This researcher’s goal was to understand more about the mutations associated with mitochondria and how they contribute to numerous neurodegenerative diseases. Using the CellRaft Arrays, cells were seeded and isolated at the 1 cell stage into PCR tubes for genomic analysis. A total of 5,835 gRNAs were phenotypically analyzed using images acquired from the AIR System. This analysis led to the discovery of several gRNAs that could significantly perturb mitochondrial morphology. Additionally, two specific genes of interest were focused on that are understudied yet play an important role in mitochondrial dynamics. Cells were seeded on an Array and imaged overtime using the AIR System. Clonal colonies were identified and isolated into collection plates for further expansion. A total of 10 isogenic clones were developed from the two genes of interest. Studies into the molecular basis for mitochondrial dysfunction set the stage for new genomic diagnostics and therapeutic discovery.

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