Tomi Pastinen
Director, Center for Pediatric Genomic Medicine, Children’s Mercy Kansas City
Adjunct Professor, Department of Human Genetics
Email: tpastinen@cmh.edu
Children’s Mercy Hospital
2401 Gillham Rd
Kansas City MO 64108
Dr. Pastinen has been the Director of the Center for Pediatric Genomic Medicine (CPGM) at Children’s Mercy Hospital, Kansas City, MO since 2017. Dr. Pastinen joined Children’s Mercy from McGill University. He held the Canada Research Chair from 2007 to 2017 and has a significant track record of academic achievement. He has authored over 120 peer-reviewed publications, including papers in top-tier journals Cell and Nature Genetics. Prior to joining Children’s Mercy, he led the epigenome mapping center at McGill as part of the International Human Epigenome Consortium, which provides maps of genome function to the global research community. Dr. Pastinen is leading Genomic Answers for Kids, a foundational initiative for future genomic research at Children’s Mercy that aims to learn from 30,000 children with genetic conditions.
Recent Publications
- Shao, X, Le Fur, S, Cheung, W, Belot, MP, Perge, K, Bouhours-Nouet, N et al.. CpG methylation changes associated with hyperglycemia in type 1 diabetes occur at angiogenic glomerular and retinal gene loci. Sci Rep. 2025;15 (1):15999. doi: 10.1038/s41598-024-82698-9. PubMed PMID:40341532 PubMed Central PMC12062505.
- Rewers, M, Agardh, D, Johnson, SB, Bonifacio, E, Larsson, HE, Gesualdo, P et al.. Unfolding the Mystery of Autoimmunity: The Environmental Determinants of Diabetes in the Young (TEDDY) Study. Diabetes Care. 2025; :. doi: 10.2337/dc24-2886. PubMed PMID:40272272 .
- Chelban, V, Pellerin, D, Vijiaratnam, N, Lee, H, Goh, YY, Brown, L et al.. Intronic FGF14 GAA repeat expansions impact progression and survival in multiple system atrophy. Brain. 2025; :. doi: 10.1093/brain/awaf134. PubMed PMID:40239008 .
- Perrier, S, Macintosh, J, Misiaszek, AD, Lambert, G, Guerrero, K, Tran, LT et al.. Novel Pathogenic Variants in POLR3K Cause POLR3-Related Leukodystrophy. Hum Mutat. 2024;2024 :8807171. doi: 10.1155/2024/8807171. PubMed PMID:40225923 PubMed Central PMC11919171.
- Pastinen, T, Grundberg, E, Bradley, T, Honkanen, J, Cheung, W, Vuorela, A et al.. Evolving epigenomics of immune cells in type 1 diabetes at single nuclei resolution. Res Sq. 2025; :. doi: 10.21203/rs.3.rs-5588592/v1. PubMed PMID:40195977 PubMed Central PMC11975021.
- Keskus, AG, Bryant, A, Ahmad, T, Yoo, B, Aganezov, S, Goretsky, A et al.. Severus detects somatic structural variation and complex rearrangements in cancer genomes using long-read sequencing. Nat Biotechnol. 2025; :. doi: 10.1038/s41587-025-02618-8. PubMed PMID:40185952 .
- Groza, C, Ge, B, Cheung, WA, Pastinen, T, Bourque, G. Expanded methylome and quantitative trait loci detection by long-read profiling of personal DNA. Genome Res. 2025;35 (4):644-652. doi: 10.1101/gr.279240.124. PubMed PMID:40113263 PubMed Central PMC12047246.
- Chen, X, Baker, D, Dolzhenko, E, Devaney, JM, Noya, J, Berlyoung, AS et al.. Genome-wide profiling of highly similar paralogous genes using HiFi sequencing. Nat Commun. 2025;16 (1):2340. doi: 10.1038/s41467-025-57505-2. PubMed PMID:40057485 PubMed Central PMC11890787.
- Berrios, C, Basey, T, Bradley-Ewing, A, Daniels-Young, S, Lewis, D, Feldman, K et al.. Black community member perceptions and ethics recommendations on epigenomic research. Clin Epigenetics. 2025;17 (1):33. doi: 10.1186/s13148-025-01840-0. PubMed PMID:39987106 PubMed Central PMC11847333.
- Wojcik, MH, Clark, RD, Elias, AF, Genetti, CA, Madden, JA, Simpson, D et al.. Long-Read Sequencing is Required for Precision Diagnosis of Incontinentia Pigmenti. Res Sq. 2025; :. doi: 10.21203/rs.3.rs-5811417/v1. PubMed PMID:39975911 PubMed Central PMC11838753.