Pablo Perez-Pinera

For More Information

• Genome Engineering and Transcriptional Regulation Laboratory

Research Interests

• Exon splicing
• Transcriptional Regulation
• Gene Editing
• Neurodegenerative diseases
• Gene Therapy
• Genome Engineering
• Synthetic Biology

Selected Articles in Journals

• Shraddha Shirguppe, Michael Gapinske, Devyani Swami, Kyrollos Shenouda, Angelo Miskalis, Nicholas Gosstola, Daniela Del Bosque Siller, Isabelle Guerra, Pankaj Acharya, Dana Joulani, Maddie G. Szkwarek, Ananthan Nambiar, Abhishek Bhattacharjee, Anagha S. Dangi, Norah Odle, Gabrielle E. Nathan, Gianna Elias, Michelle Stilger, Jackson Winter, Wendy S. Woods, Daphine Anand, Colin K.W. Lim, Sergei Maslov, Thomas Gaj, Pablo Perez-Pinera. In vivo CRISPR base editing for treatment of Huntington’s disease. Nature Biomedical Engineering. Accepted.
• Ioannis Grammatikakis, Chosita Norkaew, You Jin Song, Amit K Behera, Erica C Pehrsson, Corrine Corrina R Hartford, Shreya Kordale, Rishabh Prasanth, Yongmei Zhao, Biraj Shrethsa, Xiao Ling Li, Ravi Kumar, Ragini Singh, Tayvia Brownmiller, Xinyu Wen, Natasha J Caplen, Pablo Perez-Pinera, Kannanganattu V Prasanth, Thomas Gonatopoulos-Pournatzis, Ashish Lal. Intron Retention Controls Localization of lncRNAs PURPL and MALAT1 to Promote Cell Proliferation and Migration. bioRxiv [Preprint]. 2026 Mar 25:2026.02.19.706780.  doi: 10.64898/2026.02.19.706780.
• You Jin Song, Min Kyung Shinn, Sushant Bangru, Yu Wang, Qinyu Sun, Qinyu Hao, Pankaj Chaturvedi, Susan M Freier, Pablo Perez-Pinera, Erik R Nelson, Andrew S Belmont, Mitchell Guttman, Supriya G Prasanth, Auinash Kalsotra, Rohit V Pappu, Kannanganattu V Prasanth. LncRNA-splicing factor condensates regulate hypoxia-responsive pre-mRNA processing near nuclear speckles. Mol Cell. 2026 Mar 19;86(6):1061-1080.e10.  doi: 10.1016/j.molcel.2026.02.014
• Quijano E, Martinez-Saucedo D, Ianniello Z, Pinto-Medici N, Rackear M, Chen H, Lola-Pereira L, Liu Y, Hegan D, Shan X, Tseng R, Yugawa D, Chowdhury S, Khang M, Singh JP, Abdullah R, Azhir P, Kashima S, Woods WS, Gosstola N, Turner BC, Squinto S, Ludwig DL, Bindra RS, Robert ME, Braun DA, Perez Pinera P, Saltzman WM, Escobar-Hoyos LF, Glazer PM. Systemic administration of an RNA binding and cell-penetrating antibody targets therapeutic RNA to multiple mouse models of cancer. Sci Transl Med. 2025 Jul 16;17(807):eadk1868.doi: 10.1126/scitranslmed.adk1868. Epub 2025 Jul 16.
• Guerra I, Jensen K, Perez-Pinera P. Implementation of an Undergraduate Laboratory-Based Mammalian Genome Editing Course. CRISPR J. 2025 Oct;8(5):366-374.
• Miskalis A, Shirguppe S, Winter J, Elias G, Swami D, Nambiar A, Stilger M, Woods WS, Gosstola N, Gapinske M, Zeballos A, Moore H, Maslov S, Gaj T, Perez-Pinera P. SPLICER: a highly efficient base editing toolbox that enables in vivo therapeutic exon skipping. Nat Commun. 2024 Nov 28;15(1):10354.
• Shirguppe S, Gapinske M, Swami D, Gosstola N, Acharya P, Miskalis A, Joulani D, Szkwarek MG, Bhattacharjee A, Elias G, Stilger M, Winter J, Woods WS, Anand D, Lim CKW, Gaj T, Perez-Pinera P. In vivo CRISPR base editing for treatment of Huntington's disease. bioRxiv [Preprint]. 2024 Jul 6:2024.07.05.602282. doi: 10.1101/2024.07.05.602282.
• Gaj T, Perez-Pinera P. Next Generation Genome Editing. Curr Opin Biomed Eng. 2024
• Gapinske M, Winter J, Swami D, Gapinske L, Woods WS, Shirguppe S, Miskalis A, Busza A, Joulani D, Kao CJ, Kostan K, Bigot A, Bashir R, Perez-Pinera P. Targeting Duchenne muscular dystrophy by skipping DMD exon 45 with base editors. Mol Ther Nucleic Acids. 2023 Jul 27;33:572-586.
• Lim CKW, McCallister TX, Saporito-Magriña C, McPheron GD, Krishnan R, Zeballos C MA, Powell JE, Clark LV, Perez-Pinera P*, Gaj T*. CRISPR base editing of cis-regulatory elements enables the perturbation of neurodegeneration-linked genes. Mol Ther. 2022 Dec 7;30(12):3619-3631. *Co-corresponding authors.
• Lim CKW, Gapinske M, Brooks AK, Woods WS, Powell JE, Zeballos C MA, Winter J, Perez-Pinera P*, Gaj T*. Treatment of a Mouse Model of ALS by In Vivo Base Editing. Mol Ther. 2020 Apr 8;28(4):1177-1189. *Co-corresponding authors.
• Winter J, Luu A, Gapinske M, Manandhar S, Shirguppe S, Woods WS, Song JS, Perez-Pinera P. Targeted Exon Skipping with AAV-Mediated Split Adenine Base Editors. Cell Discovery. 2019 Aug 20;5:41
• Brown A, Winter J, Gapinske M, Tague N, Woods WS, Perez-Pinera P. Multiplexed and tunable transcriptional activation by promoter insertion using nuclease-assisted vector integration. Nucleic Acids Res. 2019 Jul 9;47(12):e67
• CRISPR-SKIP: programmable gene splicing with single base editors. Gapinske M, Luu A, Winter J, Woods WS, Kostan KA, Shiva N, Song JS, Perez-Pinera P. Genome Biol. 2018 Aug 15;19(1):107.
• Synergistic and tunable human gene activation by combinations of synthetic transcription factors. Perez-Pinera P, Ousterout DG, Brunger JM, Farin AM, Glass KA, Guilak F, Crawford GE, Hartemink AJ, Gersbach CA. Nat Methods. 2013 Mar;10(3):239-42.
• RNA-guided gene activation by CRISPR-Cas9-based transcription factors. Perez-Pinera P, Kocak DD, Vockley CM, Adler AF, Kabadi AM, Polstein LR, Thakore PI, Glass KA, Ousterout DG, Leong KW, Guilak F, Crawford GE, Reddy TE, Gersbach CA. Nat Methods. 2013 Oct;10(10):973-6.

Presentations

• None

Public Service Honors

• None

Other Honors

• None

Recent Courses Taught

• BIOE 202 - Cell & Tissue Engineering Lab
• BIOE 306 - Biofabrication Lab
• BIOE 460 - Gene Editing Lab