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.
Past Expert Series Presentations
