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Mother Child W Physician
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 91九色视频 component to the Wisconsin Genomics Initiative, a consortium including our group and 91九色视频 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

  • Chief, Division of Genomic Pediatrics
  • Research Unit Leader: Genetics and Genomics, Children's Research Institute

Publications

  • (Marquart JP, Nie Q, Gonzalez T, Jelin AC, Broeckel U, Wagner AJ, Reddi HV.) J Dev Biol. 2024 Dec 19;12(4) PMID: 39728087 PMCID: PMC11727865 SCOPUS ID: 2-s2.0-85213421816 12/27/2024

  • (Armstrong ND, Srinivasasainagendra V, Patki A, Jones AC, Parcha V, Pampana A, Broeckel U, Lange LA, Arora P, Limdi NA, Tiwari HK, Irvin MR.) JAMA Cardiol. 2024 Dec 01;9(12):1134-1141 PMID: 39441603 PMCID: PMC11581630 SCOPUS ID: 2-s2.0-85212456818 10/23/2024

  • (Gaedigk A, Turner AJ, Moyer AM, Zubiaur P, Boone EC, Wang WY, Broeckel U, Kalman LV.) J Mol Diagn. 2024 Oct;26(10):864-875 PMID: 39032822 PMCID: PMC11818935 SCOPUS ID: 2-s2.0-85202151465 07/21/2024

  • (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

  • (Gu CC, Matter A, Turner A, Aggarwal P, Yang W, Sun X, Hunt SC, Lewis CE, Arnett DK, Anson B, Kattman S, Broeckel U.) bioRxiv. 2024 Apr 21 PMID: 38659937 PMCID: PMC11042381 04/25/2024

  • (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

  • (MacKinnon GE 3rd, Mills M, Stoddard A, Urrutia RA, Broeckel U.) Pharmacy (Basel). 2023 Nov 17;11(6) PMID: 37987388 PMCID: PMC10661282 11/21/2023

  • (de las Fuentes L, Schwander KL, Brown MR, Bentley AR, Winkler TW, Sung YJ, Munroe PB, Miller CL, Aschard H, Aslibekyan S, Bartz TM, Bielak LF, Chai JF, Cheng CY, Dorajoo R, Feitosa MF, Guo X, Hartwig FP, Horimoto A, Kol膷i膰 I, Lim E, Liu Y, Manning AK, Marten J, Musani SK, Noordam R, Padmanabhan S, Rankinen T, Richard MA, Ridker PM, Smith AV, Vojinovic D, Zonderman AB, Alver M, Boissel M, Christensen K, Freedman BI, Gao C, Giulianini F, Harris SE, He M, Hsu FC, Kühnel B, Laguzzi F, Li X, Lyytikäinen LP, Nolte IM, Poveda A, Rauramaa R, Riaz M, Robino A, Sofer T, Takeuchi F, Tayo BO, van der Most PJ, Verweij N, Ware EB, Weiss S, Wen W, Yanek LR, Zhan Y, Amin N, Arking DE, Ballantyne C, Boerwinkle E, Brody JA, Broeckel U, Campbell A, Canouil M, Chai X, Chen YI, Chen X, Chitrala KN, Concas MP, de Faire U, de Mutsert R, de Silva HJ, de Vries PS, Do A, Faul JD, Fisher V, Floyd JS, Forrester T, Friedlander Y, Girotto G, Gu CC, Hallmans G, Heikkinen S, Heng CK, Homuth G, Hunt S, Ikram MA, Jacobs DR Jr, Kavousi M, Khor CC, Kilpeläinen TO, Koh WP, Komulainen P, Langefeld CD, Liang J, Liu K, Liu J, Lohman K, Mägi R, Manichaikul AW, McKenzie CA, Meitinger T, Milaneschi Y, Nauck M, Nelson CP, O'Connell JR, Palmer ND, Pereira AC, Perls T, Peters A, Pola拧ek O, Raitakari OT, Rice K, Rice TK, Rich SS, Sabanayagam C, Schreiner PJ, Shu XO, Sidney S, Sims M, Smith JA, Starr JM, Strauch K, Tai ES, Taylor KD, Tsai MY, Uitterlinden AG, van Heemst D, Waldenberger M, Wang YX, Wei WB, Wilson G, Xuan D, Yao J, Yu C, Yuan JM, Zhao W, Becker DM, Bonnefond A, Bowden DW, Cooper RS, Deary IJ, Divers J, Esko T, Franks PW, Froguel P, Gieger C, Jonas JB, Kato N, Lakka TA, Leander K, Lehtimäki T, Magnusson PKE, North KE, Ntalla I, Penninx B, Samani NJ, Snieder H, Spedicati B, van der Harst P, Völzke H, Wagenknecht LE, Weir DR, Wojczynski MK, Wu T, Zheng W, Zhu X, Bouchard C, Chasman DI, Evans MK, Fox ER, Gudnason V, Hayward C, Horta BL, Kardia SLR, Krieger JE, Mook-Kanamori DO, Peyser PA, Province MM, Psaty BM, Rudan I, Sim X, Smith BH, van Dam RM, van Duijn CM, Wong TY, Arnett DK, Rao DC, Gauderman J, Liu CT, Morrison AC, Rotter JI, Fornage M.) Front Genet. 2023;14:1235337 PMID: 38028628 PMCID: PMC10651736 11/29/2023

  • (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

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