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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 (@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

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

Publications

  • CYP2C19 c.681G>A Is not in Complete Linkage Disequilibrium With c.332-23A>G: Implications for Pharmacogenetic Testing.

    (Turner AJ, Boone EC, Haidar CE, Yang W, Derezinski AD, Haddad A, Empey PE, Broeckel U, Gaedigk A.) Clin Transl Sci. 2026 Aug;19(8):e70684 PMID: 42535320 PMCID: PMC13425612 SCOPUS ID: 2-s2.0-105046056761 07/31/2026

  • Optical Genome Mapping and Long-Read Sequencing Identifies a Novel Dystrophin Gene Inversion in a Patient With Duchenne Muscular Dystrophy.

    (Gallagher R, Aguilera A, Villarreal SA, Zalan A, Tomei J, Alghazzy D, Scott S, Slack N, Matter A, Broeckel U, Giampietro P.) Am J Med Genet A. 2026 Aug;200(8):1874-1878 PMID: 41869909 SCOPUS ID: 2-s2.0-105033461950 03/23/2026

  • Mosaic loss of Y chromosome associates with lung function, emphysema, and epigenetic aging.

    (Saw WY, Kim K, Huang Y, Yun JH, Ma X, Bacon J, Pershad Y, Levy D, O'Connor GT, Boerwinkle E, Barr RG, Rich SS, Rotter JI, Carson AP, Raffield LM, Gharib SA, Bartz TM, Psaty BM, Sofer T, North KE, Kaplan RC, Oelsner EC, Manichaikul A, Bick AG, Scheet P, Reiner AP, NHLBI Trans-Omics for Precision Medicine Consortium, Jakubek YA, Auer PL, Cho MH, DeMeo DL.) Am J Respir Crit Care Med. 2026 Jul 01;212(7):1483-1494 PMID: 42085243 PMCID: PMC13322295 SCOPUS ID: 2-s2.0-105043543172 05/05/2026

  • Small Copy Number Neutral Intrachromosomal Translocation of PAX6 and Aniridia.

    (Reis LM, Tomei J, Gallagher R, Matter A, Carroll J, Broeckel U, Semina EV.) JAMA Ophthalmol. 2026 Jun 01;144(6):541-544 PMID: 42133303 PMCID: PMC13177189 SCOPUS ID: 2-s2.0-105039924784 05/14/2026

  • cellSTAAR: incorporating single-cell-sequencing-based functional data to boost power in rare variant association testing of noncoding regions.

    (Van Buren E, Zhang Y, Li X, Selvaraj MS, Li Z, Zhou H, Palmer ND, Arnett DK, Blangero J, Boerwinkle E, Cade BE, Carlson JC, Carson AP, Chen YI, Curran J, Duggirala R, Fornage M, Franceschini N, Graff M, Gu C, Guo X, He J, Heard-Cosa N, Hou L, Hung YJ, Kalyani RR, Kardia SLR, Kenny E, Kooperberg C, Kral BG, Lange L, Levy D, Li C, Liu S, Lloyd-Jones D, Loos RJF, Manichaikul AW, Martin LW, Mathias R, Minster RL, Mitchell BD, Mychaleckyj JC, Naseri T, North K, O'Connell J, Perry JA, Peyser PA, Psaty BM, Raffield LM, Vasan RS, Redline S, Reiner AP, Rich SS, Smith JA, Spitzer B, Tang H, Taylor KD, Tracy R, Viali S, Yanek L, Zhao W, NHLBI Trans-Omics for Precision Medicine (TOPMed) Consortium, Rotter JI, Peloso GM, Natarajan P, Lin X.) Nat Methods. 2026 Feb;23(2):338-349 PMID: 41476111 PMCID: PMC13284854 SCOPUS ID: 2-s2.0-105027787046 01/01/2026

  • Evaluation of functional annotation-informed and ancestry-specific polygenic risk scores for ischemic stroke.

    (Armstrong ND, Srinivasasainagendra V, Patki A, Pilla L, Aldridge C, Jones AC, Broeckel U, Lange EM, Lange LA, Arora P, Limdi NA, Iwaki H, Sargent L, Kim J, Ng MCY, Mercader JM, Keene KL, Worrall BB, Tiwari HK, Irvin MR.) Front Bioinform. 2026;6:1875388 PMID: 42787420 PMCID: PMC13601841 SCOPUS ID: 2-s2.0-105051736194 09/25/2026

  • Improving performance of polygenic risk scores for hypertension across two ancestry groups.

    (Irvin MR, Srinivasasainagendra V, Armstrong ND, Patki A, Broeckel U, Wang Z, Lange LA, Limdi NA, Huerta-Chagoya A, Kim J, Ng MCY, Mercader JM, Tiwari HK.) PLoS One. 2026;21(7):e0353311 PMID: 42497180 PMCID: PMC13399276 SCOPUS ID: 2-s2.0-105046098120 07/24/2026

  • Inferring germline pharmacogenomics from tumor transcriptome.

    (Yang W, Wu G, Klco JM, Nichols KE, Jeha S, Inaba H, Pui CH, Bhakta N, Broeckel U, Yang JJ, Haidar CE.) Pharmacogenet Genomics. 2026 Jan 01;36(1):1-8 PMID: 40995674 SCOPUS ID: 2-s2.0-105020828081 09/25/2025

  • Biomimetic fractal topography enhances podocyte maturation in vitro.

    (Liu C, Aggarwal P, Wagner KT, Landau S, Cui T, Song X, Shamaei L, Rafatian N, Zhao Y, Rodriguez-Ramirez S, Morton K, Virlee E, Li CY, Bannerman D, Pascual-Gil S, Okhovatian S, Radisic A, Clotet-Freixas S, Veres T, Sadrzadeh M, Filleter T, Broeckel U, Konvalinka A, Radisic M.) Nat Commun. 2025 Dec 15;16(1):11116 PMID: 41398144 PMCID: PMC12706010 SCOPUS ID: 2-s2.0-105024756225 12/16/2025

  • Whole genome sequence analysis of low-density lipoprotein cholesterol across 246 K individuals.

    (Selvaraj MS, Li X, Li Z, Van Buren E, Haidermota S, Postupaka D, Hornsby W, Bis JC, Brody JA, Cade BE, Chung RH, Curran JE, Damrauer SM, de Las Fuentes L, de Vries PS, Duggirala R, Freedman BI, Graff M, Guo X, Hidalgo BA, Hou L, Irvin R, Judy R, Kalyani RR, Kelly TN, Konigsberg IR, Kral BG, Kwee LC, Levy D, Li C, Manichaikul AW, Martin LW, Montasser ME, Morrison AC, Naseri T, North KE, O'Connell JR, Palmer ND, Peyser PA, Reiner AP, Shah SH, Smit RAJ, Smith JA, Taylor KD, Tiwari H, Tsai MY, Viali S, Wang Z, Wang Y, Zhao W, Arnett DK, Blangero J, Boerwinkle E, Bowden DW, Carlson JC, Chen YI, Ellinor PT, Fornage M, He J, Heard-Costa N, Kaplan RC, Kardia SLR, Kooperberg C, Kraus WE, Lange LA, Loos RJF, Mitchell BD, Psaty BM, Rader DJ, Redline S, Rich SS, Yanek LR, Gibbs R, Gabriel S, Viaud-Martinez KA, Dutcher SK, Germer S, Kim R, Rotter JI, Lin X, Peloso GM, NHLBI Trans-Omics for Precision Medicine (TOPMed) Consortium, Natarajan P.) Genome Biol. 2025 Sep 09;26(1):273 PMID: 40926209 PMCID: PMC12418676 SCOPUS ID: 2-s2.0-105015796289 09/10/2025

  • Polygenic prediction of body mass index and obesity through the life course and across ancestries.

    (Smit RAJ, Wade KH, Hui Q, Arias JD, Yin X, Christiansen MR, Yengo L, Preuss MH, Nakabuye M, Rocheleau G, Graham SE, Buchanan VL, Chittoor G, Graff M, Guindo-Martínez M, Lu Y, Marouli E, Sakaue S, Spracklen CN, Vedantam S, Wilson EP, Chen SH, Ferreira T, Ji Y, Karaderi T, Lüll K, Machado M, Malden DE, Medina-Gomez C, Moore A, Rüeger S, Akiyama M, Allison MA, Alvarez M, Andersen MK, Appadurai V, Arbeeva L, Bartell E, Bhaskar S, Bielak LF, Bis JC, Bollepalli S, Bork-Jensen J, Bradfield JP, Bradford Y, Brandl C, Braund PS, Brody JA, Broeckel U, Burgdorf KS, Cade BE, Cai Q, Camarda S, Campbell A, Cañadas-Garre M, Chai JF, Chesi A, Choi SH, Christofidou P, Couture C, Cuellar-Partida G, Danning R, Degenhardt F, Delgado GE, Delitala A, Demirkan A, Deng X, Dietl A, Dimitriou M, Dimitrov L, Dorajoo R, Eichelmann F, Eliasen AU, Engmann JE, Erdos MR, Fairhurst-Hunter Z, Farmaki AE, Faul JD, Fernandez-Lopez JC, Forer L, Frank M, Freitag-Wolf S, Fritsche LG, Fuchsberger C, Galesloot TE, Gao Y, Geller F, Giannakopoulou O, Giulianini F, Gjesing AP, Goel A, Gordon SD, Gorski M, Grove J, Guo X, Gustafsson S, Haessler J, Hansen TF, Havulinna AS, Haworth SJ, Heard-Costa N, Hemerich D, Highland HM, Hindy G, Ho YL, Hofer E, Holliday E, Horn K, Hornsby WE, Hottenga JJ, Huang H, Huang J, Huerta-Chagoya A, Huo S, Hwang MY, Hwu CM, Iha H, Ikeda DD, Isono M, Jackson AU, Jansen IE, Jiang Y, Johansson I, Jonsson A, Jørgensen T, Kalafati IP, Kanai M, Kanoni S, Kårhus LL, Kasturiratne A, Katsuya T, Kawaguchi T, Kember RL, Kentistou KA, Kim D, Kim HN, Kim YJ, Kleber ME, Knol MJ, Kurbasic A, Lauzon M, Le P, Lea R, Lee JY, Lee WJ, Leonard HL, Li H, Li SA, Li X, Li X, Liang J, Lin H, Lin K, Liu J, Liu X, Lo KS, Long J, Lores-Motta L, Luan J, Lyssenko V, Lyytikäinen LP, Mahajan A, Malik MZ, Mamakou V, Mangino M, Manichaikul A, Marten J, Mattheisen M, McDaid AF, Mei Q, Meiselbach H, Melendez TL, Milaneschi Y, Miller JE, Millwood IY, Mishra PP, Mitchell RE, Møllehave LT, Mononen N, Mucha S, Munz M, Mykkänen J, Nakatochi M, Nardone GG, Nelson CP, Nethander M, Nho CW, Nielsen AA, Nolte IM, Nongmaithem SS, Noordam R, Ntalla I, Nutile T, Pandit A, Pauper M, Petersen ERB, Petersen LV, Piluso F, Polašek O, Poveda A, Pyarajan S, Raffield LM, Rakugi H, Ramirez J, Rasheed A, Raven D, Rayner NW, Riveros C, Rohde R, Ruggiero D, Ruotsalainen SE, Ryan KA, Sabater-Lleal M, Santin A, Saxena R, Scholz M, Shen B, Shi J, Shin JH, Sidore C, Sidorenko J, Sim X, Slieker RC, Smith AV, Smith JA, Smyth LJ, Southam L, Steinthorsdottir V, Sun L, Takeuchi F, Taylor KD, Tayo BO, Tcheandjieu C, Terzikhan N, Tesolin P, Teumer A, Theusch E, Thompson DJ, Thorleifsson G, Timmers PRHJ, Trompet S, Turman C, Vaccargiu S, van der Laan SW, van der Most PJ, van Klinken JB, van Setten J, Verma SS, Verweij N, Veturi Y, Wang CA, Wang C, Wang JS, Wang L, Wang YX, Wang Z, Warren HR, Bin Wei W, Wen W, Wheeler WA, Wickremasinghe AR, Wielscher M, Winsvold BS, Wong A, Wuttke M, Xia R, Yamamoto K, Yang J, Yao J, Young H, Yousri NA, Yu L, Zeng L, Zhang W, Zhang X, Zhao JH, Zhao W, Zhou W, Zimmermann ME, Zoledziewska M, 't Hart LM, Adair LS, Adams HHH, Aguilar-Salinas CA, Al-Mulla F, Arnett DK, Asselbergs FW, Åsvold BO, Attia J, Banas B, Bandinelli S, Beilin LJ, Bennett DA, Bergler T, Bharadwaj D, Biino G, Boerwinkle E, Böger CA, Borja JB, Bouchard C, Bowden DW, Brandslund I, Brumpton B, Buring JE, Caulfield MJ, Chambers JC, Chandak GR, Chanock SJ, Chaturvedi N, Ida Chen YD, Chen Z, Cheng CY, Cho YS, Christensen K, Christophersen IE, Ciullo M, Cole JW, Collins FS, Concas MP, Cooper RS, Cruz M, Cucca F, Cutler MJ, Damrauer SM, Dantoft TM, de Borst GJ, de Geus EJC, de Groot LCPGM, De Jager PL, de Kleijn DPV, de Silva HJ, Dedoussis GV, den Hollander AI, Du S, Easton DF, Eckardt KU, Elders PJM, Eliassen AH, Ellinor PT, Elmståhl S, Erdmann J, Evans MK, Fatkin D, Feenstra B, Feitosa MF, Ferrucci L, Florez JC, Ford I, Fornage M, Franke A, Franks PW, Freedman BI, Gieger C, Girotto G, Golightly YM, Gonzalez-V.) Nat Med. 2025 Sep;31(9):3151-3168 PMID: 40691366 PMCID: PMC12443623 SCOPUS ID: 2-s2.0-105014329108 07/22/2025

  • Sequencing in over 50,000 cases identifies coding and structural variation underlying atrial fibrillation risk.

    (Choi SH, Jurgens SJ, Xiao L, Hill MC, Haggerty CM, Sveinbjörnsson G, Morrill VN, Marston NA, Weng LC, Pirruccello JP, Arnar DO, Gudbjartsson DF, Mantineo H, von Falkenhausen AS, Natale A, Tveit A, Geelhoed B, Roselli C, Van Wagoner DR, Darbar D, Haase D, Soliman EZ, Davogustto GE, Jun G, Calkins H, Anderson JL, Brody JA, Halford JL, Barnard J, Hokanson JE, Smith JD, Bis JC, Young K, Johnson LSB, Risch L, Gula LJ, Kwee LC, Chaffin MD, Kühne M, Preuss M, Gupta N, Nafissi NA, Smith NL, Nilsson PM, van der Harst P, Wells QS, Judy RL, Schnabel RB, Johnson R, Smit RAJ, Gabriel S, Knight S, Furukawa T, Blackwell TW, Nauffal V, Wang X, Min YI, Yoneda ZT, Laksman ZWM, Bezzina CR, Alonso A, Psaty BM, Albert CM, Arking DE, Roden DM, Chasman DI, Rader DJ, Conen D, McManus DD, Fatkin D, Benjamin EJ, Boerwinkle E, Marcus GM, Christophersen IE, Smith JG, Roberts JD, Raffield LM, Shoemaker MB, Cho MH, Cutler MJ, Rienstra M, Chung MK, S Olesen M, Sinner MF, Sotoodehnia N, Kirchhof P, Loos RJF, Nazarian S, Mohanty S, Damrauer SM, Kaab S, Heckbert SR, Redline S, Shah SH, Tanaka T, Ebana Y, Regeneron Genetics Center, NHLBI Trans-Omics for Precision Medicine (TOPMed) Consortium, Holm H, Stefansson K, Ruff CT, Sabatine MS, Lunetta KL, Lubitz SA, Ellinor PT.) Nat Genet. 2025 Mar;57(3):548-562 PMID: 40050430 PMCID: PMC13450804 SCOPUS ID: 2-s2.0-105001065870 03/07/2025

Publications of Ulrich Broeckel MD from the Faculty Collaboration Database

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