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profileDaniel Evan Bauer, M.D., Ph.D.

TitleAssistant Professor of Pediatrics
InstitutionBoston Children's Hospital
DepartmentPediatrics
AddressChildren's Hospital
Karp Building, RB 08211
1 Blackfan Circle
Boston MA 02115
Phone617/919-2407
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Available: 07/10/17, Expires: 07/06/20

Imperative for the development of precision medicine is an improved understanding of the functional significance of human genetic variation. Common genetic variants associated with human traits and disease susceptibility are enriched within lineage-specific regulatory DNA. Blood cell traits represent an auspicious model to investigate genetic determinants of human phenotypic diversity. We have identified several trait-associated loci that are in protein-coding gene poor regions as well as several in protein-coding gene rich regions for which none of the neighboring genes has been implicated in hematopoiesis. These loci offer exceptional opportunities for discovery. The student will evaluate one of these loci to identify novel elements important for blood cell development. The student will use genome editing to produce regulatory sequence alterations at these loci. Mutations associated with impaired blood cell function as measured by cellular morphology, immunophenotype, and gene expression will be prioritized for further evaluation.


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The research activities and funding listed below are automatically derived from NIH ExPORTER and other sources, which might result in incorrect or missing items. Faculty can login to make corrections and additions.
DP2HL137300     (BAUER, DANIEL EVAN)Sep 30, 2016 - Jun 30, 2021
NIH/NHLBI
High-throughput discovery of essential noncoding sequences for erythropoiesis
Role: Principal Investigator

R03DK109232     (BAUER, DANIEL EVAN)Jun 1, 2016 - May 31, 2018
NIH/NIDDK
Identification of sequences and factors required for HbF repression
Role: Principal Investigator

K08DK093705     (BAUER, DANIEL EVAN)Aug 6, 2012 - May 31, 2017
NIH/NIDDK
Epigenetic regulation of BCL11A in the hemoglobin switch
Role: Principal Investigator

Collapse Bibliographic 
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Publications listed below are automatically derived from MEDLINE/PubMed and other sources, which might result in incorrect or missing publications. Faculty can login to make corrections and additions.
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  1. Gundry MC, Dever DP, Yudovich D, Bauer DE, Haas S, Wilkinson AC, Singbrant S. Technical considerations for the use of CRISPR/Cas9 in hematology research. Exp Hematol. 2017 Jul 27. PMID: 28757433.
    View in: PubMed
  2. Lessard S, Gatof ES, Beaudoin M, Schupp PG, Sher F, Ali A, Prehar S, Kurita R, Nakamura Y, Baena E, Ledoux J, Oceandy D, Bauer DE, Lettre G. An erythroid-specific ATP2B4 enhancer mediates red blood cell hydration and malaria susceptibility. J Clin Invest. 2017 Aug 01; 127(8):3065-3074. PMID: 28714864.
    View in: PubMed
  3. Midic U, Hung PH, Vincent KA, Goheen B, Schupp PG, Chen DD, Bauer DE, VandeVoort CA, Latham KE. Quantitative assessment of timing, efficiency, specificity and genetic mosaicism of CRISPR/Cas9-mediated gene editing of hemoglobin beta gene in rhesus monkey embryos. Hum Mol Genet. 2017 Jul 15; 26(14):2678-2689. PMID: 28444193.
    View in: PubMed
  4. Chung J, Wittig JG, Ghamari A, Maeda M, Dailey TA, Bergonia H, Kafina MD, Coughlin EE, Minogue CE, Hebert AS, Li L, Kaplan J, Lodish HF, Bauer DE, Orkin SH, Cantor AB, Maeda T, Phillips JD, Coon JJ, Pagliarini DJ, Dailey HA, Paw BH. Erythropoietin signaling regulates heme biosynthesis. Elife. 2017 May 29; 6. PMID: 28553927.
    View in: PubMed
  5. Hodonsky CJ, Jain D, Schick UM, Morrison JV, Brown L, McHugh CP, Schurmann C, Chen DD, Liu YM, Auer PL, Laurie CA, Taylor KD, Browning BL, Li Y, Papanicolaou G, Rotter JI, Kurita R, Nakamura Y, Browning SR, Loos RJF, North KE, Laurie CC, Thornton TA, Pankratz N, Bauer DE, Sofer T, Reiner AP. Genome-wide association study of red blood cell traits in Hispanics/Latinos: The Hispanic Community Health Study/Study of Latinos. PLoS Genet. 2017 Apr; 13(4):e1006760. PMID: 28453575.
    View in: PubMed
  6. Canver MC, Bauer DE, Orkin SH. Functional interrogation of non-coding DNA through CRISPR genome editing. Methods. 2017 May 15; 121-122:118-129. PMID: 28288828.
    View in: PubMed
  7. Canver MC, Lessard S, Pinello L, Wu Y, Ilboudo Y, Stern EN, Needleman AJ, Galactéros F, Brugnara C, Kutlar A, McKenzie C, Reid M, Chen DD, Das PP, A Cole M, Zeng J, Kurita R, Nakamura Y, Yuan GC, Lettre G, Bauer DE, Orkin SH. Variant-aware saturating mutagenesis using multiple Cas9 nucleases identifies regulatory elements at trait-associated loci. Nat Genet. 2017 Apr; 49(4):625-634. PMID: 28218758.
    View in: PubMed
  8. Smith EC, Luc S, Croney DM, Woodworth MB, Greig LC, Fujiwara Y, Nguyen M, Sher F, Macklis JD, Bauer DE, Orkin SH. Strict in vivo specificity of the Bcl11a erythroid enhancer. Blood. 2016 Nov 10; 128(19):2338-2342. PMID: 27707736.
    View in: PubMed
  9. Brendel C, Guda S, Renella R, Bauer DE, Canver MC, Kim YJ, Heeney MM, Klatt D, Fogel J, Milsom MD, Orkin SH, Gregory RI, Williams DA. Lineage-specific BCL11A knockdown circumvents toxicities and reverses sickle phenotype. J Clin Invest. 2016 Oct 03; 126(10):3868-3878. PMID: 27599293.
    View in: PubMed
  10. Chau NG, Hurwitz S, Mitchell CM, Aserlind A, Grunfeld N, Kaplan L, Hsi P, Bauer DE, Lathan CS, Rodriguez-Galindo C, Tishler RB, Haddad RI, Sallan SE, Bradner JE, French CA. Intensive treatment and survival outcomes in NUT midline carcinoma of the head and neck. Cancer. 2016 Dec 01; 122(23):3632-3640. PMID: 27509377.
    View in: PubMed
  11. Henssen AG, Jiang E, Zhuang J, Pinello L, Socci ND, Koche R, Gonen M, Villasante CM, Armstrong SA, Bauer DE, Weng Z, Kentsis A. Forward genetic screen of human transposase genomic rearrangements. BMC Genomics. 2016 Aug 04; 17:548. PMID: 27491780; PMCID: PMC4973553.
  12. Pinello L, Canver MC, Hoban MD, Orkin SH, Kohn DB, Bauer DE, Yuan GC. Analyzing CRISPR genome-editing experiments with CRISPResso. Nat Biotechnol. 2016 Jul 12; 34(7):695-7. PMID: 27404874.
    View in: PubMed
  13. Lettre G, Bauer DE. Fetal haemoglobin in sickle-cell disease: from genetic epidemiology to new therapeutic strategies. Lancet. 2016 Jun 18; 387(10037):2554-64. PMID: 27353686.
    View in: PubMed
  14. Hoban MD, Bauer DE. A genome editing primer for the hematologist. Blood. 2016 May 26; 127(21):2525-35. PMID: 27053532; PMCID: PMC4882802 [Available on 05/26/17].
  15. Masuda T, Wang X, Maeda M, Canver MC, Sher F, Funnell AP, Fisher C, Suciu M, Martyn GE, Norton LJ, Zhu C, Kurita R, Nakamura Y, Xu J, Higgs DR, Crossley M, Bauer DE, Orkin SH, Kharchenko PV, Maeda T. Transcription factors LRF and BCL11A independently repress expression of fetal hemoglobin. Science. 2016 Jan 15; 351(6270):285-9. PMID: 26816381; PMCID: PMC4778394.
  16. Hoban MD, Orkin SH, Bauer DE. Genetic treatment of a molecular disorder: gene therapy approaches to sickle cell disease. Blood. 2016 Feb 18; 127(7):839-48. PMID: 26758916; PMCID: PMC4760089 [Available on 02/18/17].
  17. Anderson H, Patch TC, Reddy PN, Hagedorn EJ, Kim PG, Soltis KA, Chen MJ, Tamplin OJ, Frye M, MacLean GA, Hübner K, Bauer DE, Kanki JP, Vogin G, Huston NC, Nguyen M, Fujiwara Y, Paw BH, Vestweber D, Zon LI, Orkin SH, Daley GQ, Shah DI. Hematopoietic stem cells develop in the absence of endothelial cadherin 5 expression. Blood. 2015 Dec 24; 126(26):2811-20. PMID: 26385351; PMCID: PMC4692141 [Available on 12/24/16].
  18. Canver MC, Smith EC, Sher F, Pinello L, Sanjana NE, Shalem O, Chen DD, Schupp PG, Vinjamur DS, Garcia SP, Luc S, Kurita R, Nakamura Y, Fujiwara Y, Maeda T, Yuan GC, Zhang F, Orkin SH, Bauer DE. BCL11A enhancer dissection by Cas9-mediated in situ saturating mutagenesis. Nature. 2015 Nov 12; 527(7577):192-7. PMID: 26375006; PMCID: PMC4644101.
  19. Bauer DE, Orkin SH. Hemoglobin switching's surprise: the versatile transcription factor BCL11A is a master repressor of fetal hemoglobin. Curr Opin Genet Dev. 2015 Aug; 33:62-70. PMID: 26375765; PMCID: PMC4705561.
  20. Vierstra J, Reik A, Chang KH, Stehling-Sun S, Zhou Y, Hinkley SJ, Paschon DE, Zhang L, Psatha N, Bendana YR, O'Neil CM, Song AH, Mich AK, Liu PQ, Lee G, Bauer DE, Holmes MC, Orkin SH, Papayannopoulou T, Stamatoyannopoulos G, Rebar EJ, Gregory PD, Urnov FD, Stamatoyannopoulos JA. Functional footprinting of regulatory DNA. Nat Methods. 2015 Oct; 12(10):927-30. PMID: 26322838.
    View in: PubMed
  21. Renneville A, Van Galen P, Canver MC, McConkey M, Krill-Burger JM, Dorfman DM, Holson EB, Bernstein BE, Orkin SH, Bauer DE, Ebert BL. EHMT1 and EHMT2 inhibition induces fetal hemoglobin expression. Blood. 2015 Oct 15; 126(16):1930-9. PMID: 26320100; PMCID: PMC4608240.
  22. Guda S, Brendel C, Renella R, Du P, Bauer DE, Canver MC, Grenier JK, Grimson AW, Kamran SC, Thornton J, de Boer H, Root DE, Milsom MD, Orkin SH, Gregory RI, Williams DA. miRNA-embedded shRNAs for Lineage-specific BCL11A Knockdown and Hemoglobin F Induction. Mol Ther. 2015 Sep; 23(9):1465-74. PMID: 26080908; PMCID: PMC4817887.
  23. Canver MC, Bauer DE, Orkin SH. Embryonic stem cells as sources of donor-independent platelets. J Clin Invest. 2015 Jun; 125(6):2261-3. PMID: 25961451; PMCID: PMC4497771.
  24. Chung J, Bauer DE, Ghamari A, Nizzi CP, Deck KM, Kingsley PD, Yien YY, Huston NC, Chen C, Schultz IJ, Dalton AJ, Wittig JG, Palis J, Orkin SH, Lodish HF, Eisenstein RS, Cantor AB, Paw BH. The mTORC1/4E-BP pathway coordinates hemoglobin production with L-leucine availability. Sci Signal. 2015 Apr 14; 8(372):ra34. PMID: 25872869; PMCID: PMC4402725.
  25. Bauer DE, Canver MC, Orkin SH. Generation of genomic deletions in mammalian cell lines via CRISPR/Cas9. J Vis Exp. 2015 Jan 03; (95):e52118. PMID: 25549070; PMCID: PMC4279820.
  26. Yien YY, Robledo RF, Schultz IJ, Takahashi-Makise N, Gwynn B, Bauer DE, Dass A, Yi G, Li L, Hildick-Smith GJ, Cooney JD, Pierce EL, Mohler K, Dailey TA, Miyata N, Kingsley PD, Garone C, Hattangadi SM, Huang H, Chen W, Keenan EM, Shah DI, Schlaeger TM, DiMauro S, Orkin SH, Cantor AB, Palis J, Koehler CM, Lodish HF, Kaplan J, Ward DM, Dailey HA, Phillips JD, Peters LL, Paw BH. TMEM14C is required for erythroid mitochondrial heme metabolism. J Clin Invest. 2014 Oct; 124(10):4294-304. PMID: 25157825; PMCID: PMC4191016.
  27. Canver MC, Bauer DE, Dass A, Yien YY, Chung J, Masuda T, Maeda T, Paw BH, Orkin SH. Characterization of genomic deletion efficiency mediated by clustered regularly interspaced palindromic repeats (CRISPR)/Cas9 nuclease system in mammalian cells. J Biol Chem. 2014 Aug 01; 289(31):21312-24. PMID: 24907273; PMCID: PMC4118095.
  28. Bauer DE, Kamran SC, Lessard S, Xu J, Fujiwara Y, Lin C, Shao Z, Canver MC, Smith EC, Pinello L, Sabo PJ, Vierstra J, Voit RA, Yuan GC, Porteus MH, Stamatoyannopoulos JA, Lettre G, Orkin SH. An erythroid enhancer of BCL11A subject to genetic variation determines fetal hemoglobin level. Science. 2013 Oct 11; 342(6155):253-7. PMID: 24115442; PMCID: PMC4018826.
  29. Xu J, Bauer DE, Kerenyi MA, Vo TD, Hou S, Hsu YJ, Yao H, Trowbridge JJ, Mandel G, Orkin SH. Corepressor-dependent silencing of fetal hemoglobin expression by BCL11A. Proc Natl Acad Sci U S A. 2013 Apr 16; 110(16):6518-23. PMID: 23576758; PMCID: PMC3631619.
  30. Xu J, Shao Z, Glass K, Bauer DE, Pinello L, Van Handel B, Hou S, Stamatoyannopoulos JA, Mikkola HK, Yuan GC, Orkin SH. Combinatorial assembly of developmental stage-specific enhancers controls gene expression programs during human erythropoiesis. Dev Cell. 2012 Oct 16; 23(4):796-811. PMID: 23041383; PMCID: PMC3477283.
  31. Sankaran VG, Ludwig LS, Sicinska E, Xu J, Bauer DE, Eng JC, Patterson HC, Metcalf RA, Natkunam Y, Orkin SH, Sicinski P, Lander ES, Lodish HF. Cyclin D3 coordinates the cell cycle during differentiation to regulate erythrocyte size and number. Genes Dev. 2012 Sep 15; 26(18):2075-87. PMID: 22929040; PMCID: PMC3444733.
  32. Bauer DE, Kamran SC, Orkin SH. Reawakening fetal hemoglobin: prospects for new therapies for the ß-globin disorders. Blood. 2012 Oct 11; 120(15):2945-53. PMID: 22904296; PMCID: PMC4467860.
  33. Bauer DE, Mitchell CM, Strait KM, Lathan CS, Stelow EB, Lüer SC, Muhammed S, Evans AG, Sholl LM, Rosai J, Giraldi E, Oakley RP, Rodriguez-Galindo C, London WB, Sallan SE, Bradner JE, French CA. Clinicopathologic features and long-term outcomes of NUT midline carcinoma. Clin Cancer Res. 2012 Oct 15; 18(20):5773-9. PMID: 22896655; PMCID: PMC3473162.
  34. Stewart AK, Shmukler BE, Vandorpe DH, Rivera A, Heneghan JF, Li X, Hsu A, Karpatkin M, O'Neill AF, Bauer DE, Heeney MM, John K, Kuypers FA, Gallagher PG, Lux SE, Brugnara C, Westhoff CM, Alper SL. Loss-of-function and gain-of-function phenotypes of stomatocytosis mutant RhAG F65S. Am J Physiol Cell Physiol. 2011 Dec; 301(6):C1325-43. PMID: 21849667; PMCID: PMC3233792.
  35. Schwartz BE, Hofer MD, Lemieux ME, Bauer DE, Cameron MJ, West NH, Agoston ES, Reynoird N, Khochbin S, Ince TA, Christie A, Janeway KA, Vargas SO, Perez-Atayde AR, Aster JC, Sallan SE, Kung AL, Bradner JE, French CA. Differentiation of NUT midline carcinoma by epigenomic reprogramming. Cancer Res. 2011 Apr 01; 71(7):2686-96. PMID: 21447744; PMCID: PMC3070805.
  36. Bauer DE, Orkin SH. Update on fetal hemoglobin gene regulation in hemoglobinopathies. Curr Opin Pediatr. 2011 Feb; 23(1):1-8. PMID: 21157349; PMCID: PMC3092400.
  37. Nelson BA, Lee EY, French CA, Bauer DE, Vargas SO. BRD4-NUT carcinoma of the mediastinum in a pediatric patient: multidetector computed tomography imaging findings. J Thorac Imaging. 2010 Aug; 25(3):W93-6. PMID: 20395873.
    View in: PubMed
  38. Hatzivassiliou G, Zhao F, Bauer DE, Andreadis C, Shaw AN, Dhanak D, Hingorani SR, Tuveson DA, Thompson CB. ATP citrate lyase inhibition can suppress tumor cell growth. Cancer Cell. 2005 Oct; 8(4):311-21. PMID: 16226706.
    View in: PubMed
  39. Bauer DE, Hatzivassiliou G, Zhao F, Andreadis C, Thompson CB. ATP citrate lyase is an important component of cell growth and transformation. Oncogene. 2005 Sep 15; 24(41):6314-22. PMID: 16007201.
    View in: PubMed
  40. Buzzai M, Bauer DE, Jones RG, Deberardinis RJ, Hatzivassiliou G, Elstrom RL, Thompson CB. The glucose dependence of Akt-transformed cells can be reversed by pharmacologic activation of fatty acid beta-oxidation. Oncogene. 2005 Jun 16; 24(26):4165-73. PMID: 15806154.
    View in: PubMed
  41. Lum JJ, Bauer DE, Kong M, Harris MH, Li C, Lindsten T, Thompson CB. Growth factor regulation of autophagy and cell survival in the absence of apoptosis. Cell. 2005 Jan 28; 120(2):237-48. PMID: 15680329.
    View in: PubMed
  42. Bauer DE, Harris MH, Plas DR, Lum JJ, Hammerman PS, Rathmell JC, Riley JL, Thompson CB. Cytokine stimulation of aerobic glycolysis in hematopoietic cells exceeds proliferative demand. FASEB J. 2004 Aug; 18(11):1303-5. PMID: 15180958; PMCID: PMC4458073.
  43. Elstrom RL, Bauer DE, Buzzai M, Karnauskas R, Harris MH, Plas DR, Zhuang H, Cinalli RM, Alavi A, Rudin CM, Thompson CB. Akt stimulates aerobic glycolysis in cancer cells. Cancer Res. 2004 Jun 01; 64(11):3892-9. PMID: 15172999.
    View in: PubMed
  44. Zong WX, Ditsworth D, Bauer DE, Wang ZQ, Thompson CB. Alkylating DNA damage stimulates a regulated form of necrotic cell death. Genes Dev. 2004 Jun 01; 18(11):1272-82. PMID: 15145826; PMCID: PMC420353.
  45. Vander Heiden MG, Choy JS, VanderWeele DJ, Brace JL, Harris MH, Bauer DE, Prange B, Kron SJ, Thompson CB, Rudin CM. Bcl-x(L) complements Saccharomyces cerevisiae genes that facilitate the switch from glycolytic to oxidative metabolism. J Biol Chem. 2002 Nov 22; 277(47):44870-6. PMID: 12244097.
    View in: PubMed
  46. Jin X, Ramanathan M, Barsoum S, Deschenes GR, Ba L, Binley J, Schiller D, Bauer DE, Chen DC, Hurley A, Gebuhrer L, El Habib R, Caudrelier P, Klein M, Zhang L, Ho DD, Markowitz M. Safety and immunogenicity of ALVAC vCP1452 and recombinant gp160 in newly human immunodeficiency virus type 1-infected patients treated with prolonged highly active antiretroviral therapy. J Virol. 2002 Mar; 76(5):2206-16. PMID: 11836398; PMCID: PMC135946.
  47. Liang P, Bauer D, Averboukh L, Warthoe P, Rohrwild M, Muller H, Strauss M, Pardee AB. Analysis of altered gene expression by differential display. Methods Enzymol. 1995; 254:304-21. PMID: 8531695.
    View in: PubMed
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