Jacob Kitzman, PhD

 Jacob Kitzman headshot
Professor of Human Genetics
Associate Chair
Department of Human Genetics and Professor of Computational Medicine and Bioinformatics
Medical School
Office:
MM Medical School
Human Genetics
1241 Catherine St, 4909 Buhl
Ann Arbor, MI 48109-5618
Email:
[email protected]
Phone:
Available to mentor
Jacob Kitzman, PhD
Jacob Kitzman headshot
Professor
  • Qualifications
  • Center Memberships
  • Research Overview
  • Recent Publications

  • Manage Your Profile

    • Qualifications
    • PhD, Genome Sciences
      University of Washington, Seattle, Washington, United States
      2008 - 2014
    • MSE, Computer Science
      Massachusetts Institute of Technology, Cambridge, Massachusetts, United States
      2004 - 2006
    • BS, Computer Science
      Massachusetts Institute of Technology, Cambridge, Massachusetts, United States
      2000 - 2004

    Center Memberships
    • Center Member
      AI and Digital Health Innovation
    • Center Member
      Samuel and Jean Frankel Cardiovascular Center

    Research Overview

    My laboratory develops genome editing and sequencing technologies to enable functional studies of genomic variation at a scope and resolution not previously possible. We apply these approaches across a range of clinically relevant human disease genes, with emphasis on:
    - DNA repair factors involved in inherited and sporadic cancer risk
    - mRNA splicing and its contributions to Mendelian disease

    Recent Publications

     See All Publications
    • Preprint
      Genomic Engineering of Gene Dosage: A Generalizable Framework for Modeling Haploinsufficiency-Mediated Human Disorders through Splicing Modulation
      Smith ED, Meisner JK, Bullard A, Ward CB, Licata J, Smith C, Kelly CM, LaRochelle ZT, Friedline S, Renberg A, Yucius R, Lange J, Hughes ED, Saunders TL, Freeman ZT, Tsan Y-C, Previs MJ, Kitzman JO, Helms AS. 2026 Sep 22; openRxiv, DOI:10.64898/2026.09.20.753023
    • Journal Article
      Mapping and rewiring the MYBPC3 promoter for rescue of haploinsufficiency driven hypertrophic cardiomyopathy.
      Renberg A, Coppersmith S, Merritt O, Tsan Y-C, Ismail E, Licata J, Sheth M, Gupta R, Kundaje A, Friedline S, Helms HC, Hughes ED, Freeman ZT, Powell G, Ware JS, Meisner J, Smith EM, Tovar A, Engreitz JM, Kitzman J, Helms AS. bioRxiv, 2026 Sep 22; DOI:10.64898/2026.09.20.752987
      PMID: PMC13622176
    • Journal Article
      Using a modular massively parallel reporter assay to discover context-dependent regulatory activity in type 2 diabetes-linked noncoding regions
      Tovar A, Kyono Y, Nishino K, Bose M, Varshney A, Parker SCJ, Kitzman JO. Human Genetics and Genomics Advances, 2026 Jul 9; 7 (3): DOI:10.1016/j.xhgg.2026.100606
      PMID: 41952336
    • Journal Article
      Saturation Genome Editing reveals the functional impact of RAD51D and XRCC2 variants.
      Casadei S, Snyder MW, Woo I, Smith N, Best S, Garge RK, Rodriguez-Salas L, Wenman C, Seid O, Hosokai A, Xu A, Tejura M, Gupta P, Heidl S, Muffley L, Ranchalis J, Stewart R, Goff NJ, Hemker SL, Baierl J, Dicks EM, Pharoah P, Bjornkjaer L, Roenlund K, Kitzman JO, Bernstein KA, Stergachis AB, Radivojac P, Fowler DM, Starita LM. bioRxiv, 2026 Jun 13; DOI:10.64898/2026.06.12.731983
      PMID: PMC13278068
    • Preprint
      Association of Clonal Hematopoiesis with Total and Cause-Specific Mortality Among Older Women
      Chang A, Ezzat D, Uddin M, Pershad Y, Collins JM, Kitzman JO, Jaiswal S, Desai P, Shadyab AH, Anderson GL, Casanova R, Wallace R, Wactawski-Wende J, Bick AG, Natarajan P, Kooperberg C, LaMonte MJ, Whitsel EA, Manson JE, Reiner AP, Honigberg MC. 2026 Jun 3; medRxiv, DOI:10.64898/2026.05.28.26354392
    • Journal Article
      Peroxisome-derived ether lipids regulate lysosomal exocytosis
      Chen L, Henn D, Dong Z, Liang J, Wielenga A, Vale G, Burugula B, Zou J, Krishnan Y, McDonald JG, Kitzman J, Li M. EMBO Journal, 2026 Jun 1; 45 (11): 3699 - 3730. DOI:10.1038/s44318-026-00791-3
      PMID: 42069866
    • Journal Article
      Metformin Does Not Significantly Alter Longitudinal Dynamics of Clonal Hematopoiesis
      Pareek E, Pershad Y, Zhao K, Uddin MM, Xue L, Vlasschaert C, Mack TM, Haessler J, Collins JM, Glick E, Glaser V, Heise R, Ling W, Haring B, Shadyab A, Beydoun H, Wallace R, Jaiswal S, Manson JE, Natarajan P, Honigberg MC, Kooperberg C, Whitsel EA, Kitzman JO, Bick AG, Reiner AP, Desai P. Clinical Cancer Research, 2026 May 1; 32 (9): 1724 - 1728. DOI:10.1158/1078-0432.CCR-25-3606
      PMID: 41603726
    • Journal Article
      Lipid metabolism transcriptomic signature of defective erythropoiesis in Diamond Blackfan anemia syndrome
      Deng K, Wang Y, Min JC, Liu X, Ueharu H, Myers G, Yu L, Hammoud S, Adam A, Saba R, Natogi V, Drysdale C, Chen B, Yee J, Kitzman JO, Lyssiotis CA, Mishina Y, Jones M, Kaartinen V, Guan Y, Khoriaty R, Engel JD, Singh SA. Blood Advances, 2026 Apr 14; 10 (7): 2272 - 2285. DOI:10.1182/bloodadvances.2025017318
      PMID: 41576344

    Featured News & Stories
    Department News

    Highlighted Publications: January - May 2026

    Department of Human Genetics faculty are involved in widely diverse areas of research, from Genome Structure and Function research to Evolutionary and Population Genetics.
    Department News

    Highlighted Publications - July 2025

    Department of Human Genetics faculty are involved in widely diverse areas of research, from Genome Structure and Function research to Evolutionary and Population Genetics.
         close up of genetic coding in dish colorful blue lab gloves
    Health Lab

    Study identifies function behind mysterious variants for gene linked to colon cancer

    Michigan Medicine researchers identify the function behind mysterious variants for a gene linked to colon cancer.
    Department News

    Highlighted Publications - April 2025

    Department of Human Genetics faculty are involved in widely diverse areas of research, from Genome Structure and Function research to Evolutionary and Population Genetics.
    Department News

    Highlighted Publications - January 2025

    Department of Human Genetics faculty are involved in widely diverse areas of research, from Genome Structure and Function research to Evolutionary and Population Genetics.
         Photo portrait of Adelaide Tovar, PhD
    Department News

    Adelaide Tovar, Ph.D., received a MOSAIC K99/R00 Award from the NIH/NHGRI

    Adelaide Tovar, Ph.D., was awarded an NIH Maximizing Opportunities for Scientific and Academic Independent Careers (MOSAIC) K99/R00, a specialized career transition program intended for postdocs who are from underrepresented backgrounds and/or have demonstrated a commitment to increasing inclusivity and equity in the scientific workforce.