Dr. Malte Spielmann

Dr. Malte Spielmann

Group Leader
Research Group Mundlos
(030) 8413 1516
1.2.08

Academic Education

2016 Habilitation; Charité-Universitätsmedizin Berlin, Germany
2016 Board certification Human Genetics, Charité-Universitätsmedizin Berlin, Germany
2010 Dr. med. (summa cum laude); University of Bochum, Germany
2009 German Medical Exam (Approbation)
2006-2007       M.D. thesis studies, Harvard Medical School, Boston, USA
2003-2006        Undergraduate studies in Medicine, University of Witten/Herdecke, Witten, Germany
                 

Academic Positions

since Oct 2018     Group leader, Charité-Universitätsmedizin Berlin & Max Planck Institute for Molecular Genetics, Berlin, Germany
2016-2018 Senior Fellow position, Department of Genome Sciences, Univ.of Washington, Seattle, USA
2013-2016 Head of Array-CGH Research Unit, Institute of Medical Genetics and Human Genetics, Charité-Universitätsmedizin Berlin, Germany
2010-2016      Research Fellow, RG Development & Disease, Max Planck Institute for Molecular Genetics, Berlin, Germany
2010-2016 Residency in Medical Genetics, Institute of Medical Genetics and Human Genetics, Charité-Universitätsmedizin Berlin, Germany
         

Additional Information

2016-2018 DFG Research Fellowship at the University of Washington, Seattle, USA
2015 Young Investigator Award of the International Skeletal Dysplasia Society (ISDS)
2013-2016 Clinical Scientist Fellowship of the DFG Graduate School 203 „BSRT“
2012 Young Investigator Award of the European Society of Human Genetics (ESHG)
2010 Doctoral Thesis Award 2010 of the University of Bochum, Germany
                    

Main Research Interests

  • Non-coding mutations and structural variants as the cause of human disease
  • Single cell analysis of pleiotropic effects of mutations during embryonic development
  • 3D chromatin architecture of rare diseases
  • CRISPR/Cas9 genome editing in the mouse to model human disease
  • high throughput functional screening of non-coding variants

 For mor information, see Spielmann Lab

           

Selected Publications

Cao J*, Spielmann M*, Qiu X, Ibrahim DM, Huang X, Hill AJ, Zhang F, Mundlos S, Christiansen S, Steemers ST, Trapnell C, Shendure J. The dynamic transcriptional landscape of mammalian organogenesis at single cell resolution. Nature 2019 Feb 20. doi: 10.1038/s41586-019-0969-x  *Co-first authors

Kragesteen BK*, Spielmann M*, Paliou C, Heinrich V, Schöpflin R, Esposito A, Annunziatella C, Bianco S, Chiariello AM, Jerković I, Harabula I, Guckelberger P, Pechstein M, Wittler L, Chan WL, Franke M, Lupiáñez DG, Kraft K, Timmermann B, Vingron M, Visel A, Nicodemi M, Mundlos S, Andrey G. Dynamic 3D chromatin architecture contributes to enhancer specificity and limb morphogenesis. Nat Genet. 2018 Oct;50(10):1463-1473. doi: 10.1038/s41588-018-0221-x. *Co-first authors

Spielmann M, Lupiáñez DG, Mundlos S. Structural variation in the 3D genome. Nature Reviews Genetics 2018 Jul;19(7):453-467. doi: 10.1038/s41576-018-0007-0

Flöttmann R, Kragesteen BK, Geuer S, Socha M, Allou L, Sowińska-Seidler A, Bosquillon de Jarcy L, Wagner J, Jamsheer A, Oehl-Jaschkowitz B, Wittler L, de Silva D, Kurth I, Maya I, Santos-Simarro F, Hülsemann W, Klopocki E, Mountford R, Fryer A, Borck G, Horn D, Lapunzina P, Wilson M, Mascrez B, Duboule D, Mundlos S, Spielmann M. Non-coding copy number variations are associated with congenital limb malformation. Genet Med. 2018 Jun;20(6):599-607. doi: 10.1038/gim

Spielmann M, Kakar N, Tayebi N, Leettola C, Nürnberg G, Sowada N, Lupiáñez DG, Harabula I, Flöttmann R, Horn D, Chan WL, Wittler L, Yilmaz R, Altmüller J, Thiele H, van Bokhoven H, Schwartz CE, Nürnberg P, Bowie JU, Ahmad J, Kubisch C, Mundlos S, Borck G. Exome sequencing and CRISPR/Cas genome editing identify mutations of ZAK as a cause of limb defects in humans and mice. Genome Res. 2016 Feb;26(2):183-91. doi: 10.1101/gr.199430.115.       

Franke M, Ibrahim DM, Andrey G, Schwarzer W, Heinrich V, Schöpflin R, Kraft K, Kempfer R, Jerković I, Chan WL, Spielmann M, Timmermann B, Wittler L, Kurth I, Cambiaso P, Zuffardi O, Houge G, Lambie L, Brancati F, Pombo A, Vingron M, Spitz F, Mundlos S. Formation of new chromatin domains determines pathogenicity of genomic duplications. Nature. 2016 Oct 13;538(7624):265-269. doi: 10.1038/nature19800

Lupiáñez DG, Kraft K, Heinrich V, Krawitz P, Brancati F, Klopocki E, Horn D, Kayserili H, Opitz JM, Laxova R, Santos-Simarro F, Gilbert-Dussardier B, Wittler L, Borschiwer M, Haas SA, Osterwalder M, Franke M, Timmermann B, Hecht J, Spielmann M, Visel A, Mundlos S. Disruptions of topological chromatin domains cause pathogenic rewiring of gene-enhancer interactions. Cell. 2015 May 21;161(5):1012-25. doi: 10.1016/j.cell.2015.04.004.

Kraft K, Geuer S, Will AJ, Chan WL, Paliou C, Borschiwer M, Harabula I, Wittler L, Franke M, Ibrahim DM, Kragesteen BK, Spielmann M, Mundlos S, Lupiáñez DG, Andrey G. Deletions, Inversions, Duplications: Engineering of Structural Variants using CRISPR/Cas in Mice. Cell Rep. 2015 Feb 4. pii: S2211-1247(15)00029-7. doi: 10.1016/j.celrep.2015.01.016

Ibn-Salem J, Köhler S, Love MI, Chung HR, Huang N, Hurles ME, Haendel M, Washington NL, Smedley D, Mungall CJ, Lewis SE, Ott CE, Bauer S, Schofield PN, Mundlos S, Spielmann M*, Robinson PN*. Deletions of chromosomal regulatory boundaries are associated with congenital disease. Genome Biology 2014, doi:10.1186/s13059-014-0423-1  *co-corresponding authors

Spielmann M, Brancati F, Krawitz PM, Robinson PN, Ibrahim DM, Franke M, Hecht J, Lohan S, Dathe K, Nardone A, Landi A, Wittler L, Timmermann B, Chan D, Mennen U, Klopocki E, Mundlos S. Homeotic Arm-to-Leg Transformation Associated with Genomic Rearrangements at the PITX1 Locus. Am J Hum Genet. 2012 Oct 5;91(4):629-35. doi: 10.1016/j.ajhg.2012.08.014. Selected as “Best of AJHG 2012 and 2013”

For more publications, see Google Scholar

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