Insights of molecular mechanisms of cortical development & Down syndrome; single-cell multi-omics скачать в хорошем качестве

Insights of molecular mechanisms of cortical development & Down syndrome; single-cell multi-omics

On Wednesday, February 18, 2026, Dr. Luis De La Torre-Ubieta, PhD presented a lecture entitled "Insights of molecular mechanisms of cortical development and Down syndrome through single-cell multi-omics" in the Engemann Family Auditorium at HMRI. Luis de la Torre-Ubieta, PhD, utilizes bioinformatics and genomic engineering to study human brain development. He aims to gain insights into the genetic, cellular and molecular mechanisms that drive this process in order to develop new treatments for neurodevelopmental and neuropsychiatric conditions, such as autism and schizophrenia. De la Torre-Ubieta studies gene and isoform expression patterns, gene regulatory mechanisms and histogenetic processes of the developing human brain, with emphasis on the neocortex. He has led work illuminating the role of transcription factors in neuronal morphogenesis, developing improved human neural stem cell models and mapping and validating gene regulatory elements governing human cortical neurogenesis. He also generated the first single-cell characterization of previously uncharacterized cell types in the neocortex, advancing our understanding of how the human brain develops and evolves — and how these processes are dysregulated in neuropsychiatric diseases. Recently, de la Torre-Ubieta expanded on this work using long-read sequencing technology to characterize patterns of isoform expression in vivo, uncovering the substantial role of isoform diversification in cell type identity and underlying neurodevelopmental disorders. His long-term goal is to translate insights from these foundational studies to develop therapeutic approaches for neurodevelopmental and neuropsychiatric disorders.