Jacob Kitzman, PhD
Associate Professor of Human Genetics
Associate Chair, Department of Human Genetics
Associate Professor of Computational Medicine and Bioinformatics
Medical School
[email protected]
Available to mentor
Jacob Kitzman, PhD
Associate Professor
Manage Your Profile
Qualifications
-
PhD, Genome SciencesUniversity of Washington, Seattle, Washington, United States
2008 - 2014
-
MSE, Computer ScienceMassachusetts Institute of Technology, Cambridge, Massachusetts, United States
2004 - 2006
-
BS, Computer ScienceMassachusetts Institute of Technology, Cambridge, Massachusetts, United States
2000 - 2004
Center Memberships
-
Center MemberAI and Digital Health Innovation
-
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
-
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 -
Ezzat D, Uddin MM, Xue L, Pershad Y, Zhang S, Collins JM, Kitzman JO, Jaiswal S, Desai P, Kooperberg C, Bick AG, Natarajan P, Manson JAE, Whitsel EA, Reiner AP, Honigberg MC. Journal of the American College of Cardiology, 2025 Oct 14; 86 (15): 1093 - 1106.Journal ArticleClonal Hematopoiesis and Cardiovascular Outcomes in Older Women
DOI:10.1016/j.jacc.2025.07.058 PMID: 40864016 -
Bose M, Tovar A, Kyono Y, Varshney A, Kitzman JO, Parker SCJ. 2025 Oct 14;PreprintMassively parallel reporter assay reveals promoter-, position-, and strand-specific effects in transcription start sites.
DOI:10.1101/2025.10.13.659964 PMID: 41279449
Featured News & Stories
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.
Department News
Highlighted Publications - July 2024
Department of Human Genetics faculty are involved in widely diverse areas of research, from Genome Structure and Function research to Evolutionary and Population Genetics.
