Mother Child W Physician
UlrichBroeckel_Academic Profile

Ulrich Broeckel, MD

Professor, Pediatrics; Adjunct Professor of Medicine, Physiology and School of Pharmacy; Chief, Section of Genomic Pediatrics; Associate Director, Pharmacogenomics, Linda T. and John A. Mellowes Center for Genomic Sciences and Precision Medicine


  • Genomic Pediatrics

Contact Information


The Broeckel lab (@broeckel_lab) specializes in the identification and functional evaluation of genes and their variants involved in cardiovascular and other complex diseases. Our research interests include: left ventricular hypertrophy, myocardial infarction, coronary artery disease, end-stage renal disease, and hypertension with projects based on large epidemiological studies in clinical cohorts. In addition, we perform microarray-based diagnostic tests with an emphasis in pharmacogenomics for both Children’s Wisconsin (Children's) and St. Jude Children’s Research Hospital and run the Nucleic Acid Extraction Core for investigators at Children’s Research Institute.

We use genome-wide association (GWA) studies to identify genes involved in complex diseases. Based on the evidence of association provided by GWA, we establish molecular and cell-based assays to investigate gene function. One way that we currently evaluate gene function utilizes the latest in next generation (NextGen) sequencing technologies. We have or are in the process of establishing strategies to examine expression levels of microRNA, single nucleotide polymorphism (SNP) and copy number (CNV) variations, and perform pharmacogenetic custom captures on multiple platforms such as the Ion Torrent Personal Genome Machine (PGM™), the Ion Torrent Proton™ and the Illumina HiSeq™.

We are also a part of a groundbreaking multicenter NHLBI initiative to generate patient-derived human-induced pluripotent stem cell (hiPSC) for the study of complex disease with our collaborators at Cellular Dynamics, International. This collaboration will result in the high-throughput development of hiPSC-derived cardiomyocytes generated from patients participating in a major hypertension epidemiological study. The cardiomyocytes will be characterized using a variety of in vitro methods and NextGen sequencing and will also be used to investigate and understand the complex molecular mechanisms and pathways underlying the genetic basis of an increase in Left Ventricular Mass leading to Left Ventricular Hypertrophy as a common and major risk factor for cardiovascular disease.

In conjunction with Children's, we launched the Advanced Genomics (AGEN) laboratory in 2009, which is regulated by the College of American Pathologists (CAP), licensed through Children's. Utilizing the Affymetrix Genome-Wide Human SNP Array 6.0 containing 1.8 million markers including SNP and CNV variations, we are able to look at duplications and deletions in patients with abnormalities to provide an innovative method in the diagnosis of genetic disorders for clinical care.

Our lab is also CLIA certified as the Developmental and Neurogenetics Laboratory (DNL). We work closely with St. Jude Children’s Research Hospital to test patient samples, looking for genetic variation of metabolic capacity. Patient DNA is tested on the Affymetrix Drug Metabolism Enzymes and Transporters (DMET™) Plus platform that uses state-of-the-art star allele translations tables and additional CNV analysis for CYP2D6 to lead to the most comprehensive interpretation for each patient’s treatment regimen.

Our pursuit of large scale epidemiological studies in clinical cohorts allows us to evaluate the effect and impact of SNPs identified in GWA studies with regard to their clinical relevance. Currently, the Broeckel lab contributes one MCW component to the Wisconsin Genomics Initiative, a consortium including our group and MCW as well as the Marshfield Clinic and the University of Wisconsin, Madison and Milwaukee.

Ongoing studies

  • Family Based Genetic Analysis for Genes Related to Inflammation and Myocardial Infarction (NHLBI)
  • Genetic Basis of Coronary Artery Disease and Coronary Collateralization (NHLBI)
  • Pediatric DNA Biobank
  • Functional GWAS for LVH using iPS-derived Cardiomyocytes: The HyperGEN ciPS Study (NHLBI)
  • HyperGen: Genetic Epidemiology of Left Ventricular Hypertrophy Genetics of CRP in Myocardial Function (NHLBI)
  • Genetics of Myocardial Infarction and Related Risk factors (NHLBI)
  • Molecular Genetics of Hypertension
  • Genetic Predisposition to End-Stage Renal Disease Epidemiology
  • The Wisconsin Genomics Initiative

Research Experience

  • Blood Pressure
  • Cardiovascular Diseases
  • Coronary Artery Disease
  • DNA Mutational Analysis
  • Gene Expression Profiling
  • Genetic Association Studies
  • Genetic Linkage
  • Genetic Predisposition to Disease
  • Genetic Testing
  • Genetic Variation
  • Genome, Human
  • Genome-Wide Association Study

Methodologies and Techniques

  • Case-Control Studies
  • DNA
  • DNA Copy Number Variations
  • Drug-Related Side Effects and Adverse Reactions
  • Exome
  • Gene Expression Profiling
  • Genetic Association Studies
  • Genetic Predisposition to Disease
  • Genetic Testing
  • Genetic Variation
  • Genetics, Population
  • Genome-Wide Association Study

Leadership Positions

  • Associate Director for Pharmacogenomics, Genomic Sciences and Precision Medicine Ctr
  • Chief, Section Genomic Pediatrics
  • Research Unit Leader: Genetics and Genomics, Children's Research Institute


  • Powerful, scalable and resource-efficient meta-analysis of rare variant associations in large whole genome sequencing studies.

    (Li X, Quick C, Zhou H, Gaynor SM, Liu Y, Chen H, Selvaraj MS, Sun R, Dey R, Arnett DK, Bielak LF, Bis JC, Blangero J, Boerwinkle E, Bowden DW, Brody JA, Cade BE, Correa A, Cupples LA, Curran JE, de Vries PS, Duggirala R, Freedman BI, Göring HHH, Guo X, Haessler J, Kalyani RR, Kooperberg C, Kral BG, Lange LA, Manichaikul A, Martin LW, McGarvey ST, Mitchell BD, Montasser ME, Morrison AC, Naseri T, O'Connell JR, Palmer ND, Peyser PA, Psaty BM, Raffield LM, Redline S, Reiner AP, Reupena MS, Rice KM, Rich SS, Sitlani CM, Smith JA, Taylor KD, Vasan RS, Willer CJ, Wilson JG, Yanek LR, Zhao W, NHLBI Trans-Omics for Precision Medicine (TOPMed) Consortium, TOPMed Lipids Working Group, Rotter JI, Natarajan P, Peloso GM, Li Z, Lin X.) Nat Genet. 2023 Jan;55(1):154-164 PMID: 36564505 PMCID: PMC10084891 SCOPUS ID: 2-s2.0-85144673676 12/24/2022

  • Whole genome sequence analysis of blood lipid levels in >66,000 individuals.

    (Selvaraj MS, Li X, Li Z, Pampana A, Zhang DY, Park J, Aslibekyan S, Bis JC, Brody JA, Cade BE, Chuang LM, Chung RH, Curran JE, de Las Fuentes L, de Vries PS, Duggirala R, Freedman BI, Graff M, Guo X, Heard-Costa N, Hidalgo B, Hwu CM, Irvin MR, Kelly TN, Kral BG, Lange L, Li X, Lisa M, Lubitz SA, Manichaikul AW, Michael P, Montasser ME, Morrison AC, Naseri T, O'Connell JR, Palmer ND, Peyser PA, Reupena MS, Smith JA, Sun X, Taylor KD, Tracy RP, Tsai MY, Wang Z, Wang Y, Bao W, Wilkins JT, Yanek LR, Zhao W, Arnett DK, Blangero J, Boerwinkle E, Bowden DW, Chen YI, Correa A, Cupples LA, Dutcher SK, Ellinor PT, Fornage M, Gabriel S, Germer S, Gibbs R, He J, Kaplan RC, Kardia SLR, Kim R, Kooperberg C, Loos RJF, Viaud-Martinez KA, Mathias RA, McGarvey ST, Mitchell BD, Nickerson D, North KE, Psaty BM, Redline S, Reiner AP, Vasan RS, Rich SS, Willer C, Rotter JI, Rader DJ, Lin X, NHLBI Trans-Omics for Precision Medicine (TOPMed) Consortium, Peloso GM, Natarajan P.) Nat Commun. 2022 Oct 11;13(1):5995 PMID: 36220816 PMCID: PMC9553944 SCOPUS ID: 2-s2.0-85139608936 10/12/2022

  • Characterization of Reference Materials for TPMT and NUDT15: A GeT-RM Collaborative Project.

    (Pratt VM, Wang WY, Boone EC, Broeckel U, Cody N, Edelmann L, Gaedigk A, Lynnes TC, Medeiros EB, Moyer AM, Mitchell MW, Scott SA, Starostik P, Turner A, Kalman LV.) J Mol Diagn. 2022 Oct;24(10):1079-1088 PMID: 35931342 PMCID: PMC9554816 SCOPUS ID: 2-s2.0-85139374747 08/06/2022

  • Incorporating G6PD genotyping to identify patients with G6PD deficiency.

    (Morris SA, Crews KR, Hayden RT, Takemoto CM, Yang W, Baker DK, Broeckel U, Relling MV, Haidar CE.) Pharmacogenet Genomics. 2022 Apr 01;32(3):87-93 PMID: 34693927 PMCID: PMC8976699 SCOPUS ID: 2-s2.0-85128159852 10/26/2021

  • Assessing the contribution of rare variants to complex trait heritability from whole-genome sequence data.

    (Wainschtein P, Jain D, Zheng Z, TOPMed Anthropometry Working Group, NHLBI Trans-Omics for Precision Medicine (TOPMed) Consortium, Cupples LA, Shadyab AH, McKnight B, Shoemaker BM, Mitchell BD, Psaty BM, Kooperberg C, Liu CT, Albert CM, Roden D, Chasman DI, Darbar D, Lloyd-Jones DM, Arnett DK, Regan EA, Boerwinkle E, Rotter JI, O'Connell JR, Yanek LR, de Andrade M, Allison MA, McDonald MN, Chung MK, Fornage M, Chami N, Smith NL, Ellinor PT, Vasan RS, Mathias RA, Loos RJF, Rich SS, Lubitz SA, Heckbert SR, Redline S, Guo X, Chen Y-I, Laurie CA, Hernandez RD, McGarvey ST, Goddard ME, Laurie CC, North KE, Lange LA, Weir BS, Yengo L, Yang J, Visscher PM.) Nat Genet. 2022 Mar;54(3):263-273 PMID: 35256806 PMCID: PMC9119698 SCOPUS ID: 2-s2.0-85126125467 03/09/2022

  • A high-resolution HLA reference panel capturing global population diversity enables multi-ancestry fine-mapping in HIV host response.

    (Luo Y, Kanai M, Choi W, Li X, Sakaue S, Yamamoto K, Ogawa K, Gutierrez-Arcelus M, Gregersen PK, Stuart PE, Elder JT, Forer L, Schönherr S, Fuchsberger C, Smith AV, Fellay J, Carrington M, Haas DW, Guo X, Palmer ND, Chen YI, Rotter JI, Taylor KD, Rich SS, Correa A, Wilson JG, Kathiresan S, Cho MH, Metspalu A, Esko T, Okada Y, Han B, NHLBI Trans-Omics for Precision Medicine (TOPMed) Consortium, McLaren PJ, Raychaudhuri S.) Nat Genet. 2021 Oct;53(10):1504-1516 PMID: 34611364 PMCID: PMC8959399 SCOPUS ID: 2-s2.0-85116750590 10/07/2021

  • Whole-genome association analyses of sleep-disordered breathing phenotypes in the NHLBI TOPMed program.

    (Cade BE, Lee J, Sofer T, Wang H, Zhang M, Chen H, Gharib SA, Gottlieb DJ, Guo X, Lane JM, Liang J, Lin X, Mei H, Patel SR, Purcell SM, Saxena R, Shah NA, Evans DS, Hanis CL, Hillman DR, Mukherjee S, Palmer LJ, Stone KL, Tranah GJ, NHLBI Trans-Omics for Precision Medicine (TOPMed) Consortium, Abecasis GR, Boerwinkle EA, Correa A, Cupples LA, Kaplan RC, Nickerson DA, North KE, Psaty BM, Rotter JI, Rich SS, Tracy RP, Vasan RS, Wilson JG, Zhu X, Redline S, TOPMed Sleep Working Group.) Genome Med. 2021 Aug 26;13(1):136 PMID: 34446064 PMCID: PMC8394596 SCOPUS ID: 2-s2.0-85115041107 08/28/2021

  • Variant-specific inflation factors for assessing population stratification at the phenotypic variance level.

    (Sofer T, Zheng X, Laurie CA, Gogarten SM, Brody JA, Conomos MP, Bis JC, Thornton TA, Szpiro A, O'Connell JR, Lange EM, Gao Y, Cupples LA, Psaty BM, NHLBI Trans-Omics for Precision Medicine (TOPMed) Consortium, Rice KM.) Nat Commun. 2021 Jun 09;12(1):3506 PMID: 34108454 PMCID: PMC8190158 SCOPUS ID: 2-s2.0-85107746519 06/11/2021

  • Personal DNA Testing Increases Pharmacy Students' Confidence and Competence in Pharmacogenomics.

    (Assem M, Broeckel U, MacKinnon GE.) Am J Pharm Educ. 2021 Apr;85(4):8249 PMID: 34283790 PMCID: PMC8086609 SCOPUS ID: 2-s2.0-85104754005 07/21/2021

  • Multi-Ancestry Genome-wide Association Study Accounting for Gene-Psychosocial Factor Interactions Identifies Novel Loci for Blood Pressure Traits.

    (Sun D, Richard M, Musani SK, Sung YJ, Winkler TW, Schwander K, Chai JF, Guo X, Kilpeläinen TO, Vojinovic D, Aschard H, Bartz TM, Bielak LF, Brown MR, Chitrala K, Hartwig FP, Horimoto ARVR, Liu Y, Manning AK, Noordam R, Smith AV, Harris SE, Kühnel B, Lyytikäinen LP, Nolte IM, Rauramaa R, van der Most PJ, Wang R, Ware EB, Weiss S, Wen W, Yanek LR, Arking DE, Arnett DK, Barac A, Boerwinkle E, Broeckel U, Chakravarti A, Chen YI, Cupples LA, Davigulus ML, de Las Fuentes L, de Mutsert R, de Vries PS, Delaney JAC, Roux AVD, Dörr M, Faul JD, Fretts AM, Gallo LC, Grabe HJ, Gu CC, Harris TB, Hartman CCA, Heikkinen S, Ikram MA, Isasi C, Johnson WC, Jonas JB, Kaplan RC, Komulainen P, Krieger JE, Levy D, Lifelines Cohort Study, Liu J, Lohman K, Luik AI, Martin LW, Meitinger T, Milaneschi Y, O'Connell JR, Palmas WR, Peters A, Peyser PA, Pulkki-Råback L, Raffel LJ, Reiner AP, Rice K, Robinson JG, Rosendaal FR, Schmidt CO, Schreiner PJ, Schwettmann L, Shikany JM, Shu XO, Sidney S, Sims M, Smith JA, Sotoodehnia N, Strauch K, Tai ES, Taylor K, Uitterlinden AG, van Duijn CM, Waldenberger M, Wee HL, Wei WB, Wilson G, Xuan D, Yao J, Zeng D, Zhao W, Zhu X, Zonderman AB, Becker DM, Deary IJ, Gieger C, Lakka TA, Lehtimäki T, North KE, Oldehinkel AJ, Penninx BWJH, Snieder H, Wang YX, Weir DR, Zheng W, Evans MK, Gauderman WJ, Gudnason V, Horta BL, Liu CT, Mook-Kanamori DO, Morrison AC, Pereira AC, Psaty BM, Amin N, Fox ER, Kooperberg C, Sim X, Bierut L, Rotter JI, Kardia SLR, Franceschini N, Rao DC, Fornage M.) HGG Adv. 2021 Jan 14;2(1) PMID: 34734193 PMCID: PMC8562625 SCOPUS ID: 2-s2.0-85119177602 11/05/2021

  • Genome sequencing unveils a regulatory landscape of platelet reactivity

    (Keramati AR, Chen MH, Rodriguez BAT, Yanek LR, Bhan A, Gaynor BJ, Ryan K, Brody JA, Zhong X, Wei Q, Abe N, Abecasis G, Aguet F, Albert C, Almasy L, Alonso A, Ament S, Anderson P, Anugu P, Applebaum-Bowden D, Ardlie K, Arking D, Arnett DK, Ashley-Koch A, Aslibekyan S, Assimes T, Auer P, Avramopoulos D, Ayas N, Balasubramanian A, Barnard J, Barnes K, Barr RG, Barron-Casella E, Barwick L, Beaty T, Beck G, Becker D, Becker L, Beer R, Beitelshees A, Benjamin E, Benos T, Bezerra M, Bielak L, Bis J, Blackwell T, Blangero J, Boerwinkle E, Bowden DW, Bowler R, Brody J, Broeckel U, Broome J, Brown D, Bunting K, Burchard E, Bustamante C, Buth E, Cade B, Cardwell J, Carey V, Carrier J, Carty C, Casaburi R, Romero JPC, Casella J, Castaldi P, Chaffin M, Chang C, Chang YC, Chasman D, Chavan S, Chen BJ, Chen WM, Chen YDI, Cho M, Choi SH, Chuang LM, Chung M, Chung RH, Clish C, Comhair S, Conomos M, Cornell E, Correa A, Crandall C, Crapo J, Cupples LA, Curran J, Curtis J, Custer B, Damcott C, Darbar D, David S, Davis C, Daya M, de Andrade M, Fuentes Ldl, de Vries P.) Nature Communications. 1 December 2021;12(1) SCOPUS ID: 2-s2.0-85108227070 12/01/2021

  • Progress and Research Priorities in Imaging Genomics for Heart and Lung Disease: Summary of an NHLBI Workshop

    (Nayor M, Shen L, Hunninghake GM, Kochunov P, Barr RG, Bluemke DA, Broeckel U, Caravan P, Cheng S, De Vries PS, Hoffmann U, Kolossváry M, Li H, Luo J, McNally EM, Thanassoulis G, Arnett DK, Vasan RS.) Circulation: Cardiovascular Imaging. 1 August 2021;14(8):E012943 SCOPUS ID: 2-s2.0-85113724192 08/01/2021