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.