Research Summary

The Ahituv lab is focused on identifying gene regulatory elements and linking nucleotide variation within them to various phenotypes including morphological differences between species, drug response and human disease. It develops and uses massively parallel reporter assays (MPRAs) that allow for high-throughput functional characterization of gene regulatory elements. In addition, the lab pioneered cis-regulation therapy (CRT), the use of gene regulatory elements as therapeutic targets for haploinsufficient disorders, and adipose modulation transplantation (AMT), a novel cancer cell therapy.

Research Funding

  • September 1, 2021 - May 31, 2026 - Massively parallel characterization of variants and elements impacting transcriptional regulation in dynamic cellular systems , Co-Principal Investigator . Sponsor: NIH, Sponsor Award ID: UM1HG011966
  • July 1, 2020 - June 30, 2025 - From Obesity GWAS to therapeutic targets , Co-Principal Investigator . Sponsor: NIH, Sponsor Award ID: R01DK124769
  • August 1, 2013 - June 30, 2023 - The Airway Functional Genomics of Bronchodilator Drug Response in Minority Children with Asthma , Co-Principal Investigator . Sponsor: NIH, Sponsor Award ID: R01HL117004
  • July 6, 2018 - March 31, 2023 - Massively parallel characterization of psychiatric disease associated regulatory elements in defined cell types , Principal Investigator . Sponsor: NIH, Sponsor Award ID: U01MH116438
  • July 1, 1982 - June 30, 2022 - Pharmaceutical Sciences and Pharmacogenomics , Co-Principal Investigator . Sponsor: NIH, Sponsor Award ID: T32GM007175
  • February 1, 2017 - January 31, 2022 - Massively parallel reporter assays and genome editing of ENCODE predicted regulatory elements , Principal Investigator . Sponsor: NIH, Sponsor Award ID: UM1HG009408
  • September 15, 2018 - August 31, 2021 - Genetic Etiology of Abdominal Hernia Susceptibility , Co-Principal Investigator . Sponsor: NIH, Sponsor Award ID: R01DK116738
  • August 16, 2019 - July 31, 2021 - Technologies for simultaneous characterization of regulatory activity and protein binding , Principal Investigator . Sponsor: NIH, Sponsor Award ID: R21HG010683
  • September 1, 2016 - June 30, 2021 - Developmental Mechanisms of Human Idiopathic Scoliosis , Co-Principal Investigator . Sponsor: NIH, Sponsor Award ID: P01HD084387
  • May 1, 2016 - February 28, 2021 - Massively parallel dissection of psychiatric regulatory networks , Co-Principal Investigator . Sponsor: NIH, Sponsor Award ID: R01MH109907
  • May 1, 2018 - April 30, 2020 - Development of massively parallel reporter assays that use cognate promoters , Co-Principal Investigator . Sponsor: NIH, Sponsor Award ID: R21HG010065
  • May 1, 2012 - March 31, 2016 - Identification & functional characterization of SIM1 obesity-associated variants , Co-Principal Investigator . Sponsor: NIH, Sponsor Award ID: R01DK090382
  • April 1, 2012 - March 31, 2016 - Characterization of neuronal gene regulatory elements associated with epilepsy , Principal Investigator . Sponsor: NIH, Sponsor Award ID: R01NS079231
  • April 24, 2012 - June 30, 2015 - Massively parallel, in vivo functional testing of regulatory elements , Co-Principal Investigator . Sponsor: NIH, Sponsor Award ID: R01HG006768
  • April 1, 2000 - June 30, 2015 - Pharmacogenomics of Membrane Transporters , Co-Investigator . Sponsor: NIH, Sponsor Award ID: U19GM061390
  • April 1, 2009 - March 31, 2015 - Characterization of regulatory elements leading to human limb malformations , Principal Investigator . Sponsor: NIH, Sponsor Award ID: R01HD059862
  • September 29, 2009 - July 31, 2014 - Computational & Functional Annotation of the Zebrafish Genome Regulatory Toolbox , Co-Principal Investigator . Sponsor: NIH, Sponsor Award ID: R01HG005058

Honors & Awards

  • 2014
    ASCPT Leon I. Goldberg Young Investigator Award
  • 2002
    Ph.D. with distinction
  • 2024
    American Society of Human Genetics (ASHG) Scientific Achievement Award

Selected Publications

  1. Kosicki M, Laboy Cintrón D, Keukeleire P, Schubach M, Page NF, Georgakopoulos-Soares I, Akiyama JA, Plajzer-Frick I, Novak CS, Kato M, Hunter RD, von Maydell K, Barton S, Godfrey P, Beckman E, Sanders SJ, Kircher M, Pennacchio LA, Ahituv N. Massively parallel reporter assays and mouse transgenic assays provide correlated and complementary information about neuronal enhancer activity. Nat Commun. 2025 May 23; 16(1):4786.  View on PubMed
  2. Matharu N, Zhao J, Sohota A, Deng L, Hung Y, Li Z, An K, Sims J, Rattanasopha S, Meyer TJ, Carbone L, Kircher M, Ahituv N. Massively parallel jumping assay decodes Alu retrotransposition activity. Nat Commun. 2025 May 09; 16(1):4310.  View on PubMed
  3. Zhao J, Baltoumas FA, Konnaris MA, Mouratidis I, Liu Z, Sims J, Agarwal V, Pavlopoulos GA, Georgakopoulos-Soares I, Ahituv N. MPRAbase a Massively Parallel Reporter Assay database. Genome Res. 2025 Apr 22.  View on PubMed
  4. Chaar DL, Jiang C, Cowan B, Patel S, Kvale M, Yin J, Mostaedi R, Ahituv N, Jorgenson E, Hoffmann TJ, Choquet H. Multi-tissue transcriptome-wide association study identifies novel candidate genes and pleiotropy effects across four abdominal hernia subtypes. HGG Adv. 2025 Apr 09; 6(3):100436.  View on PubMed
  5. Ahituv N. 2024 ASHG Scientific Achievement Award. Am J Hum Genet. 2025 Mar 06; 112(3):473-477.  View on PubMed
  6. Laboy Cintrón D, Sheng RR, Ahituv N. Functional characterization of OXTR-associated enhancers. Hum Mol Genet. 2025 Feb 17.  View on PubMed
  7. Devinsky O, Coller J, Ahrens-Nicklas R, Liu XS, Ahituv N, Davidson BL, Bishop KM, Weiss Y, Mingorance A. Gene therapies for neurogenetic disorders. Trends Mol Med. 2025 Feb 17.  View on PubMed
  8. Lima AC, Okhovat M, Stendahl AM, Yang R, VanCampen J, Nevonen KA, Herrera J, Li W, Harshman L, Fedorov LM, Vigh-Conrad KA, Ahituv N, Conrad DF, Carbone L. Deletion of an evolutionarily conserved TAD boundary impacts spermatogenesis in mice†. Biol Reprod. 2025 Feb 04.  View on PubMed
  9. Nguyen HP, An K, Ito Y, Kharbikar BN, Sheng R, Paredes B, Murray E, Pham K, Bruck M, Zhou X, Biellak C, Ushiki A, Nobuhara M, Fong SL, Bernards DA, Lynce F, Dillon DA, Magbanua MJM, Huppert LA, Hammerlindl H, Klein JA, Valdiviez L, Fiehn O, Esserman L, Desai TA, Yee SW, Rosenbluth JM, Ahituv N. Implantation of engineered adipocytes suppresses tumor progression in cancer models. Nat Biotechnol. 2025 Feb 04.  View on PubMed
  10. Agarwal V, Inoue F, Schubach M, Penzar D, Martin BK, Dash PM, Keukeleire P, Zhang Z, Sohota A, Zhao J, Georgakopoulos-Soares I, Noble WS, Yardimci GG, Kulakovskiy IV, Kircher M, Shendure J, Ahituv N. Massively parallel characterization of transcriptional regulatory elements. Nature. 2025 Mar; 639(8054):411-420.  View on PubMed
  11. Chan CSY, Mouratidis I, Montgomery A, Tsiatsianis GC, Chantzi N, Hemberg M, Ahituv N, Georgakopoulos-Soares I. The topography of nullomer-emerging mutations and their relevance to human disease. Comput Struct Biotechnol J. 2025; 30:1-11.  View on PubMed
  12. Chardon FM, McDiarmid TA, Page NF, Daza RM, Martin BK, Domcke S, Regalado SG, Lalanne JB, Calderon D, Li X, Starita LM, Sanders SJ, Ahituv N, Shendure J. Multiplex, single-cell CRISPRa screening for cell type specific regulatory elements. Nat Commun. 2024 Sep 18; 15(1):8209.  View on PubMed
  13. DeGroat W, Inoue F, Ashuach T, Yosef N, Ahituv N, Kreimer A. Comprehensive network modeling approaches unravel dynamic enhancer-promoter interactions across neural differentiation. Genome Biol. 2024 Aug 14; 25(1):221.  View on PubMed
  14. Lima AC, Okhovat M, Stendahl AM, VanCampen J, Nevonen KA, Herrera J, Li W, Harshman L, Yang R, Fedorov LM, Vigh-Conrad KA, Ahituv N, Conrad DF, Carbone L. Deletion of an evolutionarily conserved TAD boundary compromises spermatogenesis in mice. bioRxiv. 2024 Jul 10.  View on PubMed
  15. Zeng B, Bendl J, Deng C, Lee D, Misir R, Reach SM, Kleopoulos SP, Auluck P, Marenco S, Lewis DA, Haroutunian V, Ahituv N, Fullard JF, Hoffman GE, Roussos P. Genetic regulation of cell type-specific chromatin accessibility shapes brain disease etiology. Science. 2024 05 24; 384(6698):eadh4265.  View on PubMed
  16. Deng C, Whalen S, Steyert M, Ziffra R, Przytycki PF, Inoue F, Pereira DA, Capauto D, Norton S, Vaccarino FM, PsychENCODE Consortium‡, Pollen AA, Nowakowski TJ, Ahituv N, Pollard KS, PsychENCODE Consortium. Massively parallel characterization of regulatory elements in the developing human cortex. Science. 2024 May 24; 384(6698):eadh0559.  View on PubMed
  17. DeGroat W, Inoue F, Ashuach T, Yosef N, Ahituv N, Kreimer A. Comprehensive network modeling approaches unravel dynamic enhancer-promoter interactions across neural differentiation. bioRxiv. 2024 May 23.  View on PubMed
  18. Chardon FM, McDiarmid TA, Page NF, Daza RM, Martin B, Domcke S, Regalado SG, Lalanne JB, Calderon D, Li X, Starita LM, Sanders SJ, Ahituv N, Shendure J. Multiplex, single-cell CRISPRa screening for cell type specific regulatory elements. bioRxiv. 2024 Apr 30.  View on PubMed
  19. Kosicki M, Cintrón DL, Page NF, Georgakopoulos-Soares I, Akiyama JA, Plajzer-Frick I, Novak CS, Kato M, Hunter RD, von Maydell K, Barton S, Godfrey P, Beckman E, Sanders SJ, Pennacchio LA, Ahituv N. Massively parallel reporter assays and mouse transgenic assays provide complementary information about neuronal enhancer activity. bioRxiv. 2024 Apr 23.  View on PubMed
  20. Matharu N, Zhao J, Sohota A, Deng L, Hung Y, Li Z, Sims J, Rattanasopha S, Meyer J, Carbone L, Kircher M, Ahituv N. Massively parallel jumping assay decodes Alu retrotransposition activity. bioRxiv. 2024 Apr 19.  View on PubMed

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