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Pediatrics
Ulrich Broeckel, MD

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

Locations

  • Genomic Pediatrics

Contact Information

Biography

The 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

Publications

  • (Wu Q, Rafatian N, Wagner KT, Blamer J, Smith J, Okhovatian S, Aggarwal P, Wang EY, Banerjee A, Zhao Y, Nash TR, Lu RXZ, Portillo-Esquivel LE, Li CY, Kuzmanov U, Mandla S, Virlee E, Landau S, Lai BF, Gramolini AO, Liu C, Fleischer S, Veres T, Vunjak-Novakovic G, Zhang B, Mossman K, Broeckel U, Radisic M.) Proc Natl Acad Sci U S A. 2024 Jul 09;121(28):e2403581121 PMID: 38968108 PMCID: PMC11253010 SCOPUS ID: 2-s2.0-85197801239 07/05/2024

  • (Pang L, Cai C, Aggarwal P, Wang D, Vijay V, Bagam P, Blamer J, Matter A, Turner A, Ren L, Papineau K, Srinivasasainagendra V, Tiwari HK, Yang X, Schnackenberg L, Mattes W, Broeckel U.) Toxicol Sci. 2024 Jun 26;200(1):79-94 PMID: 38547396 PMCID: PMC11199917 SCOPUS ID: 2-s2.0-85197340912 03/28/2024

  • (de Vries PS, Reventun P, Brown MR, Heath AS, Huffman JE, Le NQ, Bebo A, Brody JA, Temprano-Sagrera G, Raffield LM, Ozel AB, Thibord F, Jain D, Lewis JP, Rodriguez BAT, Pankratz N, Taylor KD, Polasek O, Chen MH, Yanek LR, Carrasquilla GD, Marioni RE, Kleber ME, Trégouët DA, Yao J, Li-Gao R, Joshi PK, Trompet S, Martinez-Perez A, Ghanbari M, Howard TE, Reiner AP, Arvanitis M, Ryan KA, Bartz TM, Rudan I, Faraday N, Linneberg A, Ekunwe L, Davies G, Delgado GE, Suchon P, Guo X, Rosendaal FR, Klaric L, Noordam R, van Rooij F, Curran JE, Wheeler MM, Osburn WO, O'Connell JR, Boerwinkle E, Beswick A, Psaty BM, Kolcic I, Souto JC, Becker LC, Hansen T, Doyle MF, Harris SE, Moissl AP, Deleuze JF, Rich SS, van Hylckama Vlieg A, Campbell H, Stott DJ, Soria JM, de Maat MPM, Almasy L, Brody LC, Auer PL, Mitchell BD, Ben-Shlomo Y, Fornage M, Hayward C, Mathias RA, Kilpeläinen TO, Lange LA, Cox SR, März W, Morange PE, Rotter JI, Mook-Kanamori DO, Wilson JF, van der Harst P, Jukema JW, Ikram MA, Blangero J, Kooperberg C, Desch KC, Johnson AD, Sabater-Lleal M, Lowenstein CJ, Smith NL, Morrison AC.) Blood. 2024 May 02;143(18):1845-1855 PMID: 38320121 PMCID: PMC11443575 SCOPUS ID: 2-s2.0-85186210770 02/06/2024

  • (Broeckel U, Iqbal MA, Levy B, Sahajpal N, Nagy PL, Scharer G, Rodriguez V, Bossler A, Stence A, Skinner C, Skinner SA, Kolhe R, Stevenson R.) J Mol Diagn. 2024 Mar;26(3):213-226 PMID: 38211722 SCOPUS ID: 2-s2.0-85185462108 01/12/2024

  • (Turner AJ, Haidar CE, Yang W, Boone EC, Offer SM, Empey PE, Haddad A, Tahir S, Scharer G, Broeckel U, Gaedigk A.) Clin Transl Sci. 2024 Jan;17(1):e13699 PMID: 38129972 PMCID: PMC10777430 SCOPUS ID: 2-s2.0-85181901896 12/22/2023

  • (Gaedigk A, Boone EC, Turner AJ, van Schaik RHN, Chernova D, Wang WY, Broeckel U, Granfield CA, Hodge JC, Ly RC, Lynnes TC, Mitchell MW, Moyer AM, Oliva J, Kalman LV.) J Mol Diagn. 2023 Sep;25(9):655-664 PMID: 37354993 PMCID: PMC11284628 SCOPUS ID: 2-s2.0-85168428012 06/25/2023

  • (Weinstock JS, Gopakumar J, Burugula BB, Uddin MM, Jahn N, Belk JA, Bouzid H, Daniel B, Miao Z, Ly N, Mack TM, Luna SE, Prothro KP, Mitchell SR, Laurie CA, Broome JG, Taylor KD, Guo X, Sinner MF, von Falkenhausen AS, Kääb S, Shuldiner AR, O'Connell JR, Lewis JP, Boerwinkle E, Barnes KC, Chami N, Kenny EE, Loos RJF, Fornage M, Hou L, Lloyd-Jones DM, Redline S, Cade BE, Psaty BM, Bis JC, Brody JA, Silverman EK, Yun JH, Qiao D, Palmer ND, Freedman BI, Bowden DW, Cho MH, DeMeo DL, Vasan RS, Yanek LR, Becker LC, Kardia SLR, Peyser PA, He J, Rienstra M, Van der Harst P, Kaplan R, Heckbert SR, Smith NL, Wiggins KL, Arnett DK, Irvin MR, Tiwari H, Cutler MJ, Knight S, Muhlestein JB, Correa A, Raffield LM, Gao Y, de Andrade M, Rotter JI, Rich SS, Tracy RP, Konkle BA, Johnsen JM, Wheeler MM, Smith JG, Melander O, Nilsson PM, Custer BS, Duggirala R, Curran JE, Blangero J, McGarvey S, Williams LK, Xiao S, Yang M, Gu CC, Chen YI, Lee WJ, Marcus GM, Kane JP, Pullinger CR, Shoemaker MB, Darbar D, Roden DM, Albert C, Kooperberg C, Zhou Y, Manson JE, Desai P, Johnson AD, Mathias RA, NHLBI Trans-Omics for Precision Medicine (TOPMed) Consortium, Blackwell TW, Abecasis GR, Smith AV, Kang HM, Satpathy AT, Natarajan P, Kitzman JO, Whitsel EA, Reiner AP, Bick AG, Jaiswal S.) Nature. 2023 Apr;616(7958):755-763 PMID: 37046083 PMCID: PMC10360040 SCOPUS ID: 2-s2.0-85153988199 04/13/2023

  • (Wong WJ, Emdin C, Bick AG, Zekavat SM, Niroula A, Pirruccello JP, Dichtel L, Griffin G, Uddin MM, Gibson CJ, Kovalcik V, Lin AE, McConkey ME, Vromman A, Sellar RS, Kim PG, Agrawal M, Weinstock J, Long MT, Yu B, Banerjee R, Nicholls RC, Dennis A, Kelly M, Loh PR, McCarroll S, Boerwinkle E, Vasan RS, Jaiswal S, Johnson AD, Chung RT, Corey K, Levy D, Ballantyne C, NHLBI TOPMed Hematology Working Group, Ebert BL, Natarajan P.) Nature. 2023 Apr;616(7958):747-754 PMID: 37046084 PMCID: PMC10405350 SCOPUS ID: 2-s2.0-85152522037 04/13/2023

  • (Iqbal MA, Broeckel U, Levy B, Skinner S, Sahajpal NS, Rodriguez V, Stence A, Awayda K, Scharer G, Skinner C, Stevenson R, Bossler A, Nagy PL, Kolhe R.) J Mol Diagn. 2023 Mar;25(3):175-188 PMID: 36828597 PMCID: PMC10851778 SCOPUS ID: 2-s2.0-85148677476 02/25/2023

  • (Turner AJ, Derezinski AD, Gaedigk A, Berres ME, Gregornik DB, Brown K, Broeckel U, Scharer G.) Front Pharmacol. 2023;14:1195778 PMID: 37426826 PMCID: PMC10324673 07/10/2023

  • (Zhang X, Aggarwal P, Broeckel U, Abassi YA.) J Pharmacol Toxicol Methods. 2023;123:107282 PMID: 37419294 SCOPUS ID: 2-s2.0-85164694660 07/08/2023

  • (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

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