Natalia Acosta-Baena: The genetic gap between neurodevelopment and neurodegeneration

Dr. Natalia Acosta-Baena embodies the rare confluence of clinical and basic science expertise that modern neuroscience demands. As a physician-scientist at the University of Antioquia's Neurosciences Group, she combines her medical training with a master's in clinical epidemiology and doctoral studies in basic biomedical sciences, specializing in Genetics. Her groundbreaking work began with contributing to characterize the world's largest population affected by autosomal dominant genetic Alzheimer's disease (mutation E280A in PSEN1), establishing a foundation for numerous studies on biomarkers, clinical trial design, and genetic modifiers in this pivotal cohort. In a landmark discovery, Dr. Acosta-Baena's research revealed a novel syndrome linked to a SPAG9 variant, demonstrating how a single gene involved in neuronal retrograde transport can drive neurodevelopmental problems and neurodegeneration in affected patients. This finding challenges the traditional separation between these processes and suggests shared biological pathways. Through her continued work with families affected by neurodevelopmental disorders, she has uncovered genetic networks that reshape our understanding of rare brain diseases. Her current translational medicine and genetic epidemiology research focuses on further exploring these unexpected connections between neurodevelopment and neurodegeneration. In a Genomic Press Interview, Dr. Acosta-Baena shared her life beyond the laboratory – from her early fascination with the human brain to finding joy in Colombia's mountain sunsets with her husband and son and drawing inspiration from Latin American writers like Cortázar and García Márquez. Her dedication to scientific rigor and human connection is reflected in her philosophy that each failure teaches something essential as she works toward translating genetic discoveries into meaningful healthcare policies and personalized medicine approaches.