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Dietrich M. Egli, PhD

  • Assistant Professor of Developmental Cell Biology (in Pediatrics)
Dietrich M. Egli, PhD

Dieter Egli obtained his PhD degree from the University of Zurich, Switzerland, with Walter Schaffner, and trained as a postdoctoral fellow at Harvard University with Kevin Eggan. He joined the New York Stem Cell Foundation Research Institute as a Research Fellow, conducting work on somatic cell reprogramming in human eggs. He is now the Maimonides Assistant Professor of Developmental Cell Biology at Columbia University, with appointments at the Department of Pediatrics and Obstetrics and Gynecology.

Dr. Egli’s group studies a broad range of topics, which are connected at the level of the pluripotent stem cell, and combine basic research with therapeutic goals. The study of stem cell derived human beta cells enables the study of genes and pathways involved in beta cell failure, while also providing a source of cells that will likely be useful for cell replacement. Through grafting of human stem cell derived beta cells into animal models of diabetes we can study human genotypes in a physiologically relevant environment. In our studies to reprogram somatic cells of a diabetes patient to pluripotent stem cells, we discovered that this transition is associated with replication-dependent genetic instability. Similarly, we have seen that genetic instability is frequent during early human embryonic development, and associated with developmental arrest. A central goal of our group is to better understand the differences in the duplication of the DNA between different cell types, how these differences affect genetic stability, and to understand their functional relevance. A novel concept emerging from these studies is that cell-type specific DNA replication provides a quality control system for cell proliferation, limiting the number of cellular states compatible with the duplication of the DNA. There are numerous exciting project opportunities emerging from this concept, including on stem cell models of pregnancy loss. Other projects conducted in the Egli lab are on mitochondrial replacement and on haploid pluripotent stem cells.

Departments and Divisions

  • Department of Pediatrics
    Division of Pediatric Molecular Genetics

Languages Spoken

  • French
  • German

Education & Training

  • PhD, 2003 Molecular Biology, University of Zurich (Switzerland)

Centers/Institutes/Programs

  • Columbia Stem Cell Initiative

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Past Positions

  • January 2014 – Present: Maimonides Assistant Professor of Developmental Cell Biology in Pediatrics and Obstetrics & Gynecology, Columbia University Medical Center (CUMC).
  • July 2013 – Present: Research Mentor, Reproductive Endocrinology & Infertility Fellowship Program, CUMC.
  • January 2009 – December 2013: Adjunct Associate Research Scientist, Department of Pediatrics, Columbia University.  
  • January 2014 – December 2015: Senior Research Fellow, New York Stem Cell Foundation Research Institute.
  • Nov. 2010 – December 2013: Senior Research Fellow, New York Stem Cell Foundation Research Institute.
  • October 2008 – May 2011: NYSCF-Druckenmiller Fellow, New York Stem Cell Foundation Research Institute.  
  • May 2004 – June 2005: Oberassistent/Junior Group Leader, Institute of Molecular Biology, University of Zürich.  

Presentations

  1. F) Sui L, Danzl N, Campbell SR, Viola R, Williams D, Xing Y, Wang Y, Phillips N, Poffenberger G, Johannesson B, Oberholzer J, Powers AC, Leibel RL, Chen X, Sykes M, Egli D*. Beta Cell Replacement in Mice Using Human Type 1 Diabetes Nuclear Transfer Embryonic Stem Cells. Diabetes. 2017 Sep 20. pii: db170120. doi: 10.2337/db17-0120. PubMed PMID: 28931519
  2. Chia, G., Agudo, J., Treff, N., Sauer, M.V., Billing, D., Brown, B.D., Baer, R., Egli, D.*, Genomic Instability During Reprogramming by Nuclear Transfer is DNA Replication Dependent. Nat Cell Biol. 2017, Vol. 19 (4): pp 282-291. PMID:28263958
  3. Yamada, M. & Egli, D.*, Genome Transfer Prevents Fragmentation and Restores Developmental Potential of Developmentally Compromised Postovulatory Aged Mouse Oocytes. Stem Cell Reports, 2017 Vol. 8, pp. 1-11. http://dx.doi.org/10.1016/j.stemcr.2017.01.020. PMID 28242217
  4. Wang, L., Sui, L., Panigrahi SKMeece KXin YKim JGromada JDoege CAWardlaw SLEgli DLeibel RL. PC1/3 Deficiency Impacts Pro-opiomelanocortin Processing in Human Embryonic Stem Cell-Derived Hypothalamic Neurons. Stem Cell Reports. 2017 Feb 14;8(2): pp. 264-277. doi: 10.1016/j.stemcr.2016.12.021. PMID: 28132887
  5. Yamada M, Emmanuele V, Sanchez-Quintero MJ, Sun B, Lallos G, Paull D, Zimmer M, Pagett S, Prosser RW, Sauer MV, Hirano M, Egli D*. Genetic Drift Can Compromise Mitochondrial Replacement by Nuclear Transfer in Human Oocytes. Cell Stem Cell. 2016 Jun 2;18 (6): pp. 749-54. doi: 10.1016/j.stem.2016.04.001. Epub 2016 May 19. PMID: 27212703
  6. Burnett LC, LeDuc CA, Sulsona CR, Paull D, Rausch R, Eddiry S, Carli JF, Morabito MV, Skowronski AA, Hubner G, Zimmer M, Wang L, Day R, Levy B, Fennoy I, Dubern B, Poitou C, Clement K, Butler MG, Rosenbaum M, Salles JP, Tauber M, Driscoll DJ, Egli D, Leibel RL. Deficiency in prohormone convertase PC1 impairs prohormone processing in Prader-Willi syndrome. J Clin Invest. 2017 Jan 3;127(1):293-305. doi: 10.1172/JCI88648. Epub 2016 Dec 12. PMID:27941249
  7. Burnett LC, LeDuc CA, Sulsona CR, Paull D, Eddiry S, Levy B, Salles JP, Tauber M, Driscoll DJ, Egli D, Leibel RL. Induced pluripotent stem cells (iPSC) created from skin fibroblasts of patients with Prader-Willi syndrome (PWS) retain the molecular signature of PWS. Stem Cell Res. 2016 Nov;17(3):526-530. doi: 10.1016/j.scr.2016.08.008. Epub 2016 Aug 16. PMID:27789403
  8. Sagi, I., Chia, G., Golan-Lev, T., Peretz, M., Weissbein, U., Sui, L., Sauer, M.V., Yanuka, O., Egli, D*. and Benvenisty, N. Derivation and differentiation of haploid human embryonic stem cells (co-corresponding authors). Nature March16, 2016. 10.1038/nature17408. Nature 532, 107-111. PMID: 26982703
  9. Stratigopoulos G, Burnett LC, Rausch R, Gill R, Penn DB, Skowronski AA, LeDuc CA, Lanzano AJ, Zhang P, Storm DR, Egli D, Leibel RL. Hypomorphism of Fto and RPGRIP1L causes obesity in mice. J Clin Invest. 2016 May 2;126(5):1897-910. doi: 10.1172/JCI85526. Epub 2016 Apr 11. PMID: 27064284
  10. Kort, D.H., Chia, G., Treff, N.R., Tanaka, A.J., Xing, T., Vensand, L.B., Micucci, S., Prosser, R., Lobo, R.A., Sauer, M.V. and Egli, D*. Human embryos commonly form abnormal nuclei during development: a mechanism of DNA damage, embryonic aneuploidy and developmental arrest.  Hum Reprod, Nov. 29, 2015. doi: 10.1093/humanrep/dev281. PMID: 26621855
  11. GFP-specific CD8 T cells enable targeted cell depletion and visualization of T-cell interactions. Agudo J, Ruzo A, Park ES, Sweeney R, Kana V, Wu M, Zhao Y, Egli D, Merad M, Brown BD. Nat Biotechnol. 2015 Nov 2. doi: 10.1038/nbt.3386. PMID: 26524661
  12. Wang L, Meece K, Williams DJ, Lo KA, Zimmer M, Heinrich G, Martin Carli J, Leduc CA, Sun L, Zeltser LM, Freeby M, Goland R, Tsang SH, Wardlaw SL, Egli D*, Leibel RL. Differentiation of hypothalamic-like neurons from human pluripotent stem cells. Journal of Clinical Investigation, Jan 2, 2015. 125, 796-808, Doi:10.1172/JCI79220. PMID:25555215
  13. Johannesson, B., Sagi, I., Gore, A., Paull, D., Yamada, M., Golav-Lev, T., LeDuc, C., Shen, Y., Stern, S., Xu, N., Ma, H., Kang, E., Mitalipov, S., Sauer, M., Zhang, K., Benvenisty, N., and Egli, D*., Comparable frequencies of coding mutations and loss-of-imprinting in human pluripotent stem cells derived by nuclear transfer and defined factors. Cell Stem Cell, 2014, (15), pp. 1-9. doi:10.1016/j.stem.2014.10.002. PMID: 25517467
  14. Yamada, M., Johannesson, B., Sagi, I., Burnett, L.C., Kort, D.H., Prosser, R.W., Paull, D., Nestor, M.W., Freeby, M., Greenberg, E., Goland, R.S., Leibel, R.L., Solomon, S.L., Benvenisty, N., Sauer, M.V., and Egli, D.* (2014), Human oocytes reprogram adult somatic nuclei of a type 1 diabetic to diploid pluripotent stem cells. Nature, doi:10.1038/nature13287, Jun 26, 2014, 510(7506), pp. 533-6. PMID: 24776804
  15. Shang, L., Hua, H., Foo, K., Martinez, H., Watanabe, K., Zimmer, M., Kahler, D., Freeby, M.,  Chung, W., LeDuc, C., Goland, R., Leibel, R., and Egli, D.*, Beta cell dysfunction due to increased ER stress in a stem cell model of Wolfram syndrome. Diabetes, Nov. 13, 2013. PMID:24227685
  16. Paull, D., Emmanuele, V., Hirano, M., Sauer, M. and Egli, D*. Nuclear genome transfer in human oocytes eliminates mitochondrial DNA variants. Nature. 2013 Jan 31;493(7434):632-7. doi: 10.1038/nature11800. Epub 2012 Dec 19. PMID: 23254936
  17. Shakya, R., Reid, L.J., Reczek C.R., Cole, F., Egli, D., Lin, C.S., deRooij, D.G., Hirsch, S., Ravi, K., Hicks, J.B., Szabolcs, M., Jasin, M., Baer, R., Ludwig, T. BRCA1 tumor suppression depends on BRCT phosphoprotein binding, but not its E3 ligase activity. Science. 2011 Oct 28;334(6055):525-8. PMID: 22034435
  18. Noggle, S., Fung, H., Gore, A., Martinez, H., Crumm, C., Prosser, R., Oum, K., Paull, D., Druckenmiller, S., Freeby, M., Greenberg, E., Zhang, K., Goland, R., Sauer, M., Leibel, R., and Egli, D*. Human oocytes reprogram somatic cells to a pluripotent state. Nature 2011, 478; 70-75. PMID: 21979046
  19. Egli, D. Chen, A.E., Saphier, G., Ichida, J., Fitzgerald, C., Go, K.J., Acevedo, N., Patel, J., Baetscher, M., Kearns, W.G., Goland, R., Leibel, R.L., Melton, D.A., and Eggan, K. Reprogramming within hours following nuclear transfer into mouse but not human zygotes. Nat Commun. 2011, 2; 488. PMID: 21971503
  20. Egli, D. Chen, A.E., Saphier, G., Powers, D., Alper, M., Berger, B., Goland, R., Leibel, R.L., Melton, D.A., and Eggan, K., Impracticality of Egg Donor Recruitment in the Absence of Compensation. Cell Stem Cell 2011, 9; 293-94. PMID: 21982228
  21. Egli, D., and Eggan, K., Recipient cell nuclear factors are required for reprogramming by nuclear transfer. Development 2010, 137 (12):1953-63. PMID: 20463036
  22. Egli, D., Sandler, V.M., Shinohara, M.L., Cantor, H., Eggan, K. Reprogramming after chromosome transfer into mouse blastomeres. Curr Biol. 2009, Aug;19(16):1403-9. PMID: 19682906
  23. Chen, A. ^, Egli, D. ^, Niakan, K., Deng, J., Akutsu, H., Yamaki, M., Fitzgerald, C., Zhang, K., Melton, DA., & Eggan, K. Optimal timing of inner cell mass isolation increases the efficiency of human embryonic stem cell derivation and allows generation of sibling cell lines. Cell Stem Cell, 2009 Feb. 6; 4. PMID: 19200798 ^equal contribution.
  24. Egli, D., Rosains, J., Birkhoff, G., Eggan, K. Embryonic stem cells and cloned animals produced by chromosome transfer into mouse zygotes. Nature, 2007 Jun7; 447:79-85. PMID: 17554301.
  25. Takeuchi, H., Georgiev, O., Schaffner, W., and Egli, D.* In vivo construction of transgenes in Drosophila. Genetics, 2006; 175 2019-2028. PMID: 17179096
  26. Egli, D., Domenech, J., Selvaraj, A., Balamurugan, K., Hua, H., Yepiskoposyan, H., Vardanyan, A., Capdevila, M., Atrian, S., Georgiev, O., Schaffner, W. The four members of the Drosophila metallothionein family exhibit distinct yet overlapping roles in heavy metal homeostasis and detoxification. Genes to Cells. 2006 Jun;11(6):647-58. PMID: 16716195
  27. Egli, D., Yepiskoposyan, H., Selvaraj, A., Balamurugan, K., Rajaram, R., Simons, A., Multhaup, G., Mettler, S., Georgiev, O., Schaffner, W. A family knockout of all four Drosophila metallothioneins reveals a central role in copper homeostasis and detoxification. MCB 2006 Vol. 26(6):2286-96. PMID: 16716195
  28. Jiao, R., Bachrati, C.Z., Pedrazzi, G., Kuster, P., Petkovic, M., Li, J., Egli, D., Hickson, I.D., and Stagljar, I. (2004) Physical and functional interaction between the Bloom’s syndrome gene product and the largest subunit of chromatin assembly factor 1. Mol Cell Biol. 24(11):4710-9. PMID: 15143166
  29. Egli, D., Hafen, E., and Schaffner, W. (2004) An efficient method to generate chromosomal rearrangements by targeted DNA double-strand breaks in Drosophila melanogaster. Genome Research 14(7):1382-93. PMID: 15197166
  30. Egli, D., Selvaraj, A., Yepiskoposyan, H., Zhang, B., Hafen, E., Georgiev, O., and Schaffner, W. (2003). Knockout of 'metal-responsive transcription factor' MTF-1 in Drosophila by homologous recombination reveals its central role in heavy metal homeostasis. EMBO J. 22(1): 100-8. PMID: 12505988
  31. Zhang, B., Egli, D., Georgiev, O., and Schaffner, W. (2001). The Drosophila homolog of mammalian zinc finger factor MTF-1 activates transcription in response to heavy metals. Mol Cell Biol. 21(14): 4505-14. PMID: 11416130

• Reviews, Editorials

  1. Georgieva, D., Egli, D*., Tying genetic stability to cell identity. Cell Cycle, Vol. 16 (12), pp. 1139-1140. PMID: 28548589.
  2. Connecting the cell cycle with cellular identity. Chia G, Egli D*. Cell Reprogram. 2013 Oct;15(5):356-66. doi: 10.1089/cell.2013.0041. PMID 24073943.
  3. Tying replication to cell identity. Egli D*, Le Bin GC. Nat Rev Mol Cell Biol. 2013 Jun;14(6):326. doi: 10.1038/nrm3593. 
  4. Egli, D., Birkhoff, G., Eggan, K., Mediators of Reprogramming: transcription factors and transitions through mitosis. Nat Rev Mol Cell Biol. 2008 Jul; 9 (7): pp 505-16.

Honors & Awards

1994    Awarded membership in the ‘Schweizerische Studienstiftung’, a foundation that promotes outstanding students.    

2000    Excellency award for Masters

2003    Excellency award for PhD thesis

2011    Time magazine ‘Medical Breakthrough of the Year’

2011    Time magazine ‘People who mattered in 2011’

2012-2017       NYSCF-Robertson Investigator

2015    Maimonides Assistant Professor

2016    Harold and Golden Lamport Award for Excellence in Clinical Science Research

NIH Grants

  • NEW YORK OBESITY RESEARCH CENTER (Federal Gov)

    Dec 1 1996 - Mar 31 2021

    GENETIC SCREENING USING HUMAN HAPLOID EMBRYONIC STEM CELLS (Private)

    Sep 1 2016 - Aug 31 2020

    A STEM CELL MODEL OF CYSTIC FIBROSIS RELATED DIABETES (Private)

    Nov 1 2017 - Oct 31 2019

    MICE WITH AUTOLOGOUS HUMAN T1D-DERIVED IMMUNE SYSTEMS AND IPSC-DERIVED BETA CELL (Federal Gov)

    Sep 25 2014 - Jun 30 2019

    IMMUNE RESPONSE TO IPSC-DERIVED BETA CELLS IN TYPE 1 DIABETES (Federal Gov)

    Apr 1 2015 - Mar 31 2019

    MONOGENETIC FORMS OF DIABETES AS A TARGET FOR STEM CELL REPLACEMENT? (Private)

    Jan 1 2016 - Dec 31 2018

    MITOCHONDRIAL REPLACEMENT IN HUMAN OOCYTES (Private)

    Jul 1 2016 - Jun 30 2018

    NEW YORK STEM CELL FOUNDATION ROBERTSON INVESTIGATOR (Private)

    Jan 1 2017 - Dec 31 2017

    HELMSLEY TRUST DIABETES CELL REPOSITORY (Private)

    Jan 1 2015 - Dec 31 2017

    SANOFI INNOVATION AWARDS PROGRAM (Private)

    Dec 20 2016 - Dec 19 2017

    CLINICAL INVESTIGATION OF EFFICACY OF TAUROURODEOXYCHOLIC ACID (TUDCA) TO ENHANCE PANCREATIC BETA CELL SURVIVAL IN TYPE 1 DIABETES BY REDUCING ER STRESS (Private)

    Oct 1 2014 - Sep 30 2017

    TO FUNCTIONALLY EVALUATE POSSIBLE DISEASE-CAUSING VARIANTS IDENTIFIED IN WES/WGS TO DETERMINE PATHOGENICITY OF RARE VARIANTS AND DISEASE MECHANISM. (Private)

    Jul 1 2014 - Jun 30 2016

    THE ROLE OF ENDOPLASMIC RETICULUM STRESS IN DIABETIC BETA CELL FAILURE (NY State Gov)

    Jun 1 2014 - May 31 2016

    NYORC MOLECULAR GENETICS/MOLECULAR BIOLOGY CORE (Federal Gov)

    Jun 10 2011 - Dec 31 2014