Jacob Kitzman, PhD
Associate Professor of Human Genetics
Associate Chair
Department of Human Genetics and Associate Professor of Computational Medicine and Bioinformatics
Medical School
[email protected]
Available to mentor
Jacob Kitzman, PhD
Associate Professor
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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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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 MM, 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 J, 2026 May 2;Journal ArticlePeroxisome-derived ether lipids regulate lysosomal exocytosis.
DOI:10.1038/s44318-026-00791-3 PMID: 42069866 -
Tovar A, Kyono Y, Nishino K, Bose M, Varshney A, Parker SCJ, Kitzman JO. Human Genetics and Genomics Advances, 2026 Apr 7; 100606 - 100606.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 -
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 AR, Desai P. Clin Cancer Res, 2026 Jan 28;Journal ArticleMetformin does not significantly alter longitudinal dynamics of clonal hematopoiesis.
DOI:10.1158/1078-0432.CCR-25-3606 PMID: 41603726 -
Deng K, Wang Y, Min JC, Liu X, Ueharu H, Myers G, Yu L, Hammoud SB, Adam A, Saba R, Natogi V, Drysdale C, Chen B, Yee JL, Kitzman J, Lyssiotis CA, Mishina Y, Jones MA, Kaartinen V, Guan Y, Khoriaty R, Engel JD, Singh SA. Blood Adv, 2026 Jan 23;Journal ArticleLipid Metabolism Transcriptomic Signature of Defective Erythropoiesis in Diamond Blackfan Anemia syndrome.
DOI:10.1182/bloodadvances.2025017318 PMID: 41576344 -
Darrah KE, Hemker SL, Rawal Y, Goff NJ, Parker P, Ganesan G, Stratton CM, Oppenheimer K, Roberts E, Glick E, Banks N, Kumar A, Casadei S, Snyder MW, Nathanson K, Domchek SM, Starita LM, Olsen SK, Sung P, Kitzman JO, Bernstein KA. bioRxiv, 2026 Jan 11;Journal ArticleHigh-throughput mapping of 6,888 RAD51D variants identifies distinct biochemical functions needed for homologous recombination and olaparib response.
DOI:10.64898/2026.01.11.698865 PMID: PMC12803133 -
Ezzat D, Uddin MM, Xue L, Pershad Y, Pandey U, Kitzman JO, Jaiswal S, Desai P, Kooperberg C, Whitsel EA, Manson JE, Bick AG, Natarajan P, Reiner AP, Honigberg MC. European Heart Journal, 2026 Feb 7; 46 (Supplement_1):Journal ArticleClonal Hematopoiesis and Cardiovascular Outcomes in the Elderly
DOI:10.1093/eurheartj/ehaf784.3537
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.
