MEDELLÍN, Colombia, November 14, 2024 - In a breakthrough that bridges the gap between neurodevelopment and neurodegeneration, Dr. Natalia Acosta-Baena has identified a novel genetic syndrome that reshapes our understanding of brain disorders. Her research, featured in the latest Genomic Press Interview, reveals how a single gene involved in neuronal transport can influence both brain development and degeneration.
Dr. Acosta-Baena's discovery of a SPAG9 variant's role in both processes challenges the traditional view that neurodevelopmental disorders and neurodegeneration operate through distinct pathways. This finding emerges from her work at the University of Antioquia's Neurosciences Group, where she combines clinical expertise with advanced genetic research.
"Neurodevelopmental genetics is a field where we only see the tip of the iceberg," says Dr. Acosta-Baena. "When we manage to understand the relationship between genetic networks, we will be able to decipher neurodevelopment and neurodegeneration."
Her journey to this discovery began with contributions to characterizing the world's largest population affected by autosomal dominant genetic Alzheimer's disease (mutation E280A in PSEN1). This foundational work established new parameters for biomarker studies and clinical trial design in genetic neurodegeneration.
Dr. Acosta-Baena's research raises intriguing questions about the interconnected nature of brain development and aging. Could other transport proteins play similar dual roles? How might this understanding reshape therapeutic approaches for both neurodevelopmental disorders and neurodegenerative diseases?
"The greatest impact I hope to achieve with my research is to foster a collaborative effort that reaches individuals who are sick and their caregivers," Dr. Acosta-Baena explains. "I envision a future where our knowledge empowers people and influences health policies towards true prevention."
Beyond the laboratory, Dr. Acosta-Baena maintains an active clinical practice, drawing inspiration from rare disease presentations to fuel new research questions. Her approach combines rigorous scientific methodology with a deep appreciation for human connection, influenced by her love of Latin American literature and Colombia's mountain landscapes.
The implications of Dr. Acosta-Baena's work extend beyond immediate clinical applications. Her research suggests potential new therapeutic targets that could benefit both developmental disorders and age-related neurodegeneration. The discovery also raises questions about how genetic networks might be manipulated to prevent or delay the onset of neurological conditions.
Dr. Acosta-Baena's Genomic Press interview is part of a larger series that highlights the people behind today's most influential scientific ideas. Each interview in the series offers a blend of cutting-edge research and personal reflections, providing readers with a comprehensive view of the scientists shaping the future. By combining a focus on professional achievements with personal insights, this interview style invites a richer narrative that both engages and educates readers. This format provides an ideal starting point for profiles that delve into the scientist's impact on the field, while also touching on broader human themes. More information on the research leaders and research rising stars featured by Genomic Press can be found in our website: https://genomicpress.com .
The full Genomic Press Interview, titled "Natalia Acosta-Baena: The genetic gap between neurodevelopment and neurodegeneration," is available on 14 November 2024 in Genomic Psychiatry, offering readers an unparalleled opportunity to explore the thoughts and experiences of one of the most influential minds in neuroscience and neurobiology of brain disorders. The article is freely available online at https://url.genomicpress.com/yckpuu6k .
About Genomic Psychiatry - Genomic Psychiatry: Advancing Science from Genes to Society (ISSN: 2997-2388) represents a paradigm shift in genetics journals by interweaving advances in genomics and genetics with progress in all other areas of contemporary psychiatry. Genomic Psychiatry publishes peer-reviewed papers of the highest quality from any area within the continuum that goes from genes and molecules to neuroscience, clinical psychiatry, and public health.
