Intellectual and Developmental Disabilities Research Center

FACULTY

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. 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.
  2. Lafferty, MJ, Aygün, N, Patel, NK, Krupa, O, Liang, D, Wolter, JM et al.. MicroRNA-eQTLs in the developing human neocortex link miR-4707-3p expression to brain size. Elife. 2023;12 :. doi: 10.7554/eLife.79488. PubMed PMID:36629315 PubMed Central PMC9859047.
  3. de la Torre-Ubieta, L. Defining the evolutionary and gene regulatory logic of vertebrate neuronal diversity. Neuron. 2022;110 (1):3-5. doi: 10.1016/j.neuron.2021.12.013. PubMed PMID:34990577 .
  4. Aygün, N, Elwell, AL, Liang, D, Lafferty, MJ, Cheek, KE, Courtney, KP et al.. Brain-trait-associated variants impact cell-type-specific gene regulation during neurogenesis. Am J Hum Genet. 2021;108 (9):1647-1668. doi: 10.1016/j.ajhg.2021.07.011. PubMed PMID:34416157 PubMed Central PMC8456186.
  5. Hu, B, Won, H, Mah, W, Park, RB, Kassim, B, Spiess, K et al.. Neuronal and glial 3D chromatin architecture informs the cellular etiology of brain disorders. Nat Commun. 2021;12 (1):3968. doi: 10.1038/s41467-021-24243-0. PubMed PMID:34172755 PubMed Central PMC8233376.
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