MitoAction
Support, Education, Outreach and Advocacy for Children and Adults Living with Mitochondrial Disease
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Expert Series: Understanding Rare Genetic Variants: What Do My Results Really Mean?
June 6 @ 12:00 pm – 1:00 pm EDT
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 mutations, especially in the context of mitochondrial disease. How do clinicians and geneticists determine whether a novel or rare variant is pathogenic? What frameworks are used to classify variants, 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.”
About the Speaker
Rossana Sánchez Russo, MD
Dr. Rossana Sanchez’s lifelong dream was to become a clinical geneticist. Her career has been driven by a commitment to advancing early diagnosis and care for genetic diseases, with a strong focus on metabolic disorders. After completing her Pediatrics Residency at Miami Children’s Hospital, she trained in Genetics and Medical Biochemical Genetics at Emory University, where she now serves as an Assistant Professor and Pediatric and Metabolic geneticist. She led the highest enrolling site in a pivotal clinical trial for arginase 1 deficiency, contributing to the phase III pegzilarginase trial published in eClinicalMedicine, which supported therapy approval in Europe. She also participated in the 3q29 Emory Project, improving clinical guidance for this rare genetic syndrome. In addition to her clinical work, she trains and mentors future geneticists as Program Director for the Medical Genetics and Combined Pediatrics/Genetics residency programs.
Dr. Sanchez is passionate about understanding the "whys" behind a patient's complex symptoms at a molecular level. The reality is that few genetic conditions have approved therapies, but she is passionate about helping close that gap by being an investigator in clinical trials and patient registries, collaborating with experts worldwide, while partnering with patients and families to tailor care to their unique needs.
