De La Torre-Ubieta, Luis, Ph.D.

Research

Gene expression patterns, gene regulatory mechanisms and histogenetic processes of the developing human brain, with emphasis in the neocortex

Appointments

• Assistant Professor, Department of Psychiatry and Biobehavioral Sciences

Biography

We use multidisciplinary approaches to advance our understanding of the gene expression patterns, gene regulatory mechanisms and histogenetic processes of the developing human brain, with emphasis in the neocortex. As part of this effort we focus on 1) generating gene expression, chromatin accessibility and single-cell expression profiles of developing human brain, 2) harnessing this data to formulate hypotheses of gene function and disease mechanisms, 3) experimentally validating them in the context of development using human neural stem cell models and mouse models and 4) using advanced tissue clearing and imaging techniques to map cells and neuronal circuits.

Publications

1. Bhattacharyya, A, de la Torre-Ubieta, L, Zhu, Y, Head, E, Swarup, V, Sousa, AMM et al.. Development of Molecular Neuropathology in Down Syndrome across the Lifespan. J Neurosci. 2025;45 (46):. doi: 10.1523/JNEUROSCI.1365-25.2025. PubMed PMID:41224669 PubMed Central PMC12614066.
2. Vuong, CK, Weber, A, Seong, P, Matoba, N, Shafie, B, Salinda, A et al.. A single cell multi-omic analysis identifies molecular and gene-regulatory mechanisms dysregulated in the developing Down syndrome neocortex. bioRxiv. 2025; :. doi: 10.1101/2025.06.30.662136. PubMed PMID:40631168 PubMed Central PMC12236736.
3. Aygün, N, Vuong, C, Krupa, O, Mory, J, Le, BD, Valone, JM et al.. Genetics of cell-type-specific post-transcriptional gene regulation during human neurogenesis. Am J Hum Genet. 2024;111 (9):1877-1898. doi: 10.1016/j.ajhg.2024.07.015. PubMed PMID:39168119 PubMed Central PMC11393701.
4. Patowary, A, Zhang, P, Jops, C, Vuong, CK, Ge, X, Hou, K et al.. Developmental isoform diversity in the human neocortex informs neuropsychiatric risk mechanisms. Science. 2024;384 (6698):eadh7688. doi: 10.1126/science.adh7688. PubMed PMID:38781356 PubMed Central PMC11960787.
5. Patowary, A, Zhang, P, Jops, C, Vuong, CK, Ge, X, Hou, K et al.. Developmental isoform diversity in the human neocortex informs neuropsychiatric risk mechanisms. bioRxiv. 2023; :. doi: 10.1101/2023.03.25.534016. PubMed PMID:36993726 PubMed Central PMC10055310.

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