Jacob Kitzman, PhD
Professor of Human Genetics
Professor of Computational Medicine and Bioinformatics, Medical School
Office:
MM Medical School
Human Genetics
1241 Catherine St, 4909 Buhl
Ann Arbor, MI 48109-5618
Human Genetics
1241 Catherine St, 4909 Buhl
Ann Arbor, MI 48109-5618
Email:
[email protected]
Phone:
Available to mentor
Jacob Kitzman, PhD
Professor
Manage Your Profile
Qualifications
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PhD, Genome SciencesUniversity of Washington, Seattle, Washington, United States
2008 - 2014
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MSE, Computer ScienceMassachusetts Institute of Technology, Cambridge, Massachusetts, United States
2004 - 2006
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BS, Computer ScienceMassachusetts Institute of Technology, Cambridge, Massachusetts, United States
2000 - 2004
Center Memberships
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Center MemberAI and Digital Health Innovation
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Center MemberSamuel 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
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Darrah KE, Hemker SL, Rawal Y, Goff NJ, Parker PS, Ganesan GS, Stratton CM, Oppenheimer KG, Roberts E, Glick E, Banks N, Kumar AK, Casadei S, Snyder MW, Milliron KJ, Merajver SD, Dias AM, Nathanson KL, Domchek SM, Starita LM, Olsen SK, Sung P, Kitzman JO, Bernstein KA. Nat Commun, 2026 Oct 3; 17 (1):Journal ArticleSaturation mutagenesis enables RAD51D clinical variant interpretation and identifies distinct biochemical functions.
DOI:10.1038/s41467-026-77941-y PMID: PMC13724708 -
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 J, Helms AS. 2026 Sep 25; bioRxiv,PreprintGenomic Engineering of Gene Dosage: A Generalizable Framework for Modeling Haploinsufficiency-Mediated Human Disorders through Splicing Modulation
DOI:10.64898/2026.09.20.753023 -
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;Journal ArticleMapping and rewiring the MYBPC3 promoter for rescue of haploinsufficiency driven hypertrophic cardiomyopathy.
DOI:10.64898/2026.09.20.752987 PMID: PMC13622176 -
Bidlack C, Hemker S, Kitzman J, Desch K. Research and Practice in Thrombosis and Haemostasis, 2026 Oct 6; 10: 103983Journal ArticlePB1121 Deep Mutagenesis Scan of SERPINC1 identifies missense variants affecting antithrombin secretion
DOI:10.1016/j.rpth.2026.103983 -
Tovar A, Kyono Y, Nishino K, Bose M, Varshney A, Parker SCJ, Kitzman JO. Human Genetics and Genomics Advances, 2026 Jul 9; 7 (3):Journal ArticleUsing a modular massively parallel reporter assay to discover context-dependent regulatory activity in type 2 diabetes-linked noncoding regions
DOI:10.1016/j.xhgg.2026.100606 PMID: 41952336 -
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;Journal ArticleSaturation Genome Editing reveals the functional impact of RAD51D and XRCC2 variants.
DOI:10.64898/2026.06.12.731983 PMID: PMC13278068 -
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,PreprintAssociation of Clonal Hematopoiesis with Total and Cause-Specific Mortality Among Older Women
DOI:10.64898/2026.05.28.26354392 -
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.Journal ArticlePeroxisome-derived ether lipids regulate lysosomal exocytosis
DOI:10.1038/s44318-026-00791-3 PMID: 42069866
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.
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.
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.
