Tomi Pastinen

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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

  • Macintosh, J, Perrier, S, Pinard, M, Tran, LT, Guerrero, K, Prasad, C et al.. Biallelic pathogenic variants in POLR3D alter tRNA transcription and cause a hypomyelinating leukodystrophy: A case report. Front Neurol. 2023;14 :1254140. doi: 10.3389/fneur.2023.1254140. PubMed PMID:37915380 PubMed Central PMC10616956.
  • Lönnrot, M, Lynch, KF, Rewers, M, Lernmark, Å, Vehik, K, Akolkar, B et al.. Gastrointestinal Infections Modulate the Risk for Insulin Autoantibodies as the First-Appearing Autoantibody in the TEDDY Study. Diabetes Care. 2023;46 (11):1908-1915. doi: 10.2337/dc23-0518. PubMed PMID:37607456 PubMed Central PMC10620548.
  • Chapleau, A, Boucher, RM, Pastinen, T, Thiffault, I, Gould, PV, Bernard, G et al.. Neuropathological characterization of the cavitating leukoencephalopathy caused by COA8 cytochrome c oxidase deficiency: a case report. Front Cell Neurosci. 2023;17 :1216487. doi: 10.3389/fncel.2023.1216487. PubMed PMID:37601282 PubMed Central PMC10436302.
  • Lougheed, DR, Liu, H, Aracena, KA, Grégoire, R, Pacis, A, Pastinen, T et al.. EpiVar Browser: advanced exploration of epigenomics data under controlled access. bioRxiv. 2023; :. doi: 10.1101/2023.08.03.551309. PubMed PMID:37577719 PubMed Central PMC10418203.
  • Farrow, E, Jay, A, Means, J, Younger, S, Biswell, R, Koseva, B et al.. Case of CLPB deficiency solved by HiFi long read genome sequencing and RNAseq. Am J Med Genet A. 2023;191 (12):2908-2912. doi: 10.1002/ajmg.a.63365. PubMed PMID:37548286 .
  • Krischer, JP, Lernmark, Å, Hagopian, WA, Rewers, MJ, McIndoe, R, Toppari, J et al.. SARS-CoV-2 - No Increased Islet Autoimmunity or Type 1 Diabetes in Teens. N Engl J Med. 2023;389 (5):474-475. doi: 10.1056/NEJMc2216477. PubMed PMID:37530831 PubMed Central PMC10481371.
  • Berrios, C, Neal, S, Zion, T, Pastinen, T. Comparing Attitudes About Genomic Privacy and Data Sharing in Adolescents and Parents of Children Enrolled in a Genomic Research Repository. AJOB Empir Bioeth. 2023; :1-8. doi: 10.1080/23294515.2023.2232780. PubMed PMID:37487180 .
  • Calame, DG, Guo, T, Wang, C, Garrett, L, Jolly, A, Dawood, M et al.. Monoallelic variation in DHX9, the gene encoding the DExH-box helicase DHX9, underlies neurodevelopment disorders and Charcot-Marie-Tooth disease. Am J Hum Genet. 2023;110 (8):1394-1413. doi: 10.1016/j.ajhg.2023.06.013. PubMed PMID:37467750 PubMed Central PMC10432148.
  • Potic, A, Perrier, S, Radovic, T, Gavrilovic, S, Ostojic, J, Tran, LT et al.. Hypomyelination caused by a novel homozygous pathogenic variant in FOLR1: complete clinical and radiological recovery with oral folinic acid therapy and review of the literature. Orphanet J Rare Dis. 2023;18 (1):187. doi: 10.1186/s13023-023-02802-6. PubMed PMID:37443037 PubMed Central PMC10339608.
  • Fu, Q, Cheung, WA, Majnik, AV, Ke, X, Pastinen, T, Lane, RH et al.. Adverse Maternal Environments Perturb Hepatic DNA Methylome and Transcriptome Prior to the Adult-Onset Non-Alcoholic Fatty Liver Disease in Mouse Offspring. Nutrients. 2023;15 (9):. doi: 10.3390/nu15092167. PubMed PMID:37432267 PubMed Central PMC10180730.
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