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Elin Grundberg

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Elin Grundberg

Adjunct Professor, Department of Human Genetics

Email: egrundberg@cmh.edu
Phone: (NNN) NNN-NNNN

Children’s Mercy Hospital
2401 Gillham Rd
Kansas City MO 64108

Dr. Elin Grundberg completed her PhD (2006) in Molecular Medicine at Uppsala University, Sweden and following post-doctoral training at the McGill University and Genome Quebec Innovation Centre she joined Wellcome Trust Sanger institute in 2009 to lead the international MuTHER Consortium, which included developing a major resource of detailed genomics and epigenomics data from multiple disease-targeted tissues from twins. In 2012, she was appointed Tenure-Track Assistant Professor at the Department of Human Genetics at McGill University where her group was applying various next-generation sequencing approaches to understand genetic and epigenetic factors underlying complex disease susceptibility. Dr. Grundberg lead two CIHR team grants on this topic including the EpiTriO Consotium with partners in Canada and Europe. She held a Canada Research Chair (tier 2) in Disease Genomics and Epigenomics. 

In Oct 2017, Dr. Grundberg joined the faculty at Children’s Mercy Kansas City where she holds the Roberta D. Harding & William F. Bradley, Jr. Endowed Chair in Genomic Research. She is building a comprehensive research program leveraging international collaborations (King’s College London, UK; INSERM, France, Helmholtz Zentrum, Germany, McGill, Canada) as well as local collaborators (CM, UMKC, KUMC) for tissue-resources and methodologies essential for contemporary disease genomics and epigenomics. Research areas span genomics medicine applied in pediatric and adult populations including rare diseases, metabolic diseases, social and environmental health and perinatal/maternal health.

Dr. Grundberg currently collaborates with a number of large international research consortia and is the author of over 75 scientific papers.

Recent Publications

  • Feldman, K, Kane, NJ, Daniels-Young, S, Reed, B, Welch, J, Fitzpatrick, L et al.. Utilization of geospatial distribution in the measurement of study cohort representativeness. J Biomed Inform. 2024; :104687. doi: 10.1016/j.jbi.2024.104687. PubMed PMID:38986921 .
  • Mann, LK, Pandiri, S, Agarwal, N, Northrup, H, Au, KS, Grundberg, E et al.. Morphometric Analysis of Spina Bifida after Fetal Repair Shows New Subtypes with Associated Outcomes. medRxiv. 2024; :. doi: 10.1101/2024.05.29.24308088. PubMed PMID:38853851 PubMed Central PMC11160825.
  • Christiansen, C, Potier, L, Martin, TC, Villicaña, S, Castillo-Fernandez, JE, Mangino, M et al.. Enhanced resolution profiling in twins reveals differential methylation signatures of type 2 diabetes with links to its complications. EBioMedicine. 2024;103 :105096. doi: 10.1016/j.ebiom.2024.105096. PubMed PMID:38574408 PubMed Central PMC11004697.
  • Smail, C, Ge, B, Keever-Keigher, MR, Schwendinger-Schreck, C, Cheung, W, Johnston, JJ et al.. Complex trait associations in rare diseases and impacts on Mendelian variant interpretation. medRxiv. 2024; :. doi: 10.1101/2024.01.10.24301111. PubMed PMID:38260377 PubMed Central PMC10802745.
  • Li, X, Shao, X, Kou, M, Wang, X, Ma, H, Grundberg, E et al.. DNA Methylation at ABCG1 and Long-term Changes in Adiposity and Fat Distribution in Response to Dietary Interventions: The POUNDS Lost Trial. Diabetes Care. 2023;46 (12):2201-2207. doi: 10.2337/dc23-0748. PubMed PMID:37770056 PubMed Central PMC10698224.
  • Mullin, BH, Zhu, K, Brown, SJ, Mullin, S, Dudbridge, F, Pavlos, NJ et al.. Leveraging osteoclast genetic regulatory data to identify genes with a role in osteoarthritis. Genetics. 2023;225 (2):. doi: 10.1093/genetics/iyad150. PubMed PMID:37579195 PubMed Central PMC10550309.
  • Varberg, KM, Dominguez, EM, Koseva, B, Varberg, JM, McNally, RP, Moreno-Irusta, A et al.. Extravillous trophoblast cell lineage development is associated with active remodeling of the chromatin landscape. Nat Commun. 2023;14 (1):4826. doi: 10.1038/s41467-023-40424-5. PubMed PMID:37563143 PubMed Central PMC10415281.
  • Cheung, WA, Johnson, AF, Rowell, WJ, Farrow, E, Hall, R, Cohen, ASA et al.. Direct haplotype-resolved 5-base HiFi sequencing for genome-wide profiling of hypermethylation outliers in a rare disease cohort. Nat Commun. 2023;14 (1):3090. doi: 10.1038/s41467-023-38782-1. PubMed PMID:37248219 PubMed Central PMC10226990.
  • Kou, M, Li, X, Shao, X, Grundberg, E, Wang, X, Ma, H et al.. DNA Methylation of Birthweight-Blood Pressure Genes and Changes of Blood Pressure in Response to Weight-Loss Diets in the POUNDS Lost Trial. Hypertension. 2023;80 (6):1223-1230. doi: 10.1161/HYPERTENSIONAHA.123.20864. PubMed PMID:37039021 PubMed Central PMC10192077.
  • Hassan, N, Gregson, CL, Tang, H, van der Kamp, M, Leo, P, McInerney-Leo, AM et al.. Rare and Common Variants in GALNT3 May Affect Bone Mass Independently of Phosphate Metabolism. J Bone Miner Res. 2023;38 (5):678-691. doi: 10.1002/jbmr.4795. PubMed PMID:36824040 PubMed Central PMC10729283.
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