When a genetic variant is shared by only a handful of individuals worldwide, what does it mean for diagnosis, treatment, and research? In this session, we’ll explore the complexities of interpreting ultra-rare genetic mutationsgenetic variant, genetic change, especially in the context of mitochondrialRelated to the mitochondria. disease. How do clinicians and geneticists determine whether a novel or rare variant is pathogenicCausing disease. Often used in reference to harmful DNA mutations.? What frameworks are used to classify variantsSpecific change in the DNA., and how do phenotypic data contribute to this process? Can a “variant of uncertain significance” (VUS) eventually be reclassified as clinically meaningful? Join Dr. Rossan Sanchez, Assistant Professor and Pediatric & Metabolic Geneticist at Emory Genetics, for an in-depth discussion on the scientific, clinical, and emotional challenges faced by individuals in the mitochondrial disease community who truly are “the rare among the rare.”
