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Draft:Gudrun Rappold

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Rappold in 2020

Gudrun A. Rappold, born August 27, 1954 in Heilbronn, is a German human geneticist known for her research on genetic diseases at the University of Heidelberg.[1][2]

Education

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After studying biological sciences in Heidelberg, Konstanz, and Stanford (USA), Rappold earned her doctorate in 1984 at the University of Heidelberg under the supervision of Thomas Cremer and Friedrich Vogel.[1][2] Her research has focused on the role of human sex chromosomes, which she continued as a post-doctoral researcher at the Medical Research Council (MRC) Mammalian Genome Unit with Howard Cooke in Edinburgh, Scotland.[3]

Research

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At the European Molecular Biology Laboratory (EMBL) in Heidelberg and the Imperial Cancer Research Fund (ICRF) in London, her work with Hans Lehrach has focused on novel genomic techniques in mouse and human genetics.[4] In 1990, she established her own research group at the Institute of Human Genetics in Heidelberg, supported by the Gerhard Hess Program of the German Research Foundation.[5]

From 2003 to 2022, she has held the position of full professor and chair of the newly created Department of Molecular Human Genetics at the Medical Faculty of the University of Heidelberg.[1][6] She is also a co-opted member of the Faculty of Biosciences at Heidelberg University.[1][2]

Career

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Rappold's primary research focus is on investigating the molecular mechanisms underlying genetic developmental disorders. She specifically studies neurodevelopmental disordes and the genetic causes of intellectual disability and autism.[7][8] Additionally, she explores the regulation of transcription factors during growth and development in different disorders.[7] She has identified and functionally characterised several novel disease genes by employing different techniques such as genome editing, cell culture-based methods, induced pluripotent stem cells, and animal models.[7][8] More recently she became involved in the protection of genetic minorities.[9][10][11][12][13]

Rappold is a member of the Center of Rare Diseases, an associate member of the Excellence Cluster CellNetworks, member of the Interdisciplinary Center of Neurosciences and the German Cardiology Centre (DZHK).[1][2] Her expertise extends to international advisory boards and governmental bodies in the field of science and scientific advice to the courts.[1][2] She has co-coordinated an international multicentric diagnostic and clinical trial and provides consultancy services to the biomedical industry.[1][6]

Awards and honours

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Selected publications

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  • Cooke, Howard J.; Brown, William R. A.; Rappold, Gudrun A. (1985-10-24). "Hypervariable telomeric sequences from the human sex chromosomes are pseudoautosomal". Nature. 317 (6039): 687–692. Bibcode:1985Natur.317..687C. doi:10.1038/317687a0. ISSN 0028-0836. PMID 2997619.
  • Rao, Ercole; Weiss, Birgit; Fukami, Maki; Rump, Andreas; Niesler, Beate; Mertz, Annelyse; Muroya, Koji; Binder, Gerhard; Kirsch, Stefan; Winkelmann, Martina; Nordsiek, Gabriele; Heinrich, Udo; Breuning, Martijn H.; Ranke, Michael B.; Rosenthal, André; Rappold, G A (1997-05-01). "Pseudoautosomal deletions encompassing a novel homeobox gene cause growth failure in idiopathic short stature and Turner syndrome". Nature Genetics. 16 (1): 54–63. doi:10.1038/ng0597-54. ISSN 1061-4036. PMID 9140395.
  • Blaschke, Rüdiger J.; Hahurij, Nathan D.; Kuijper, Sanne; Just, Steffen; Wisse, Lambertus J.; Deissler, Kirsten; Maxelon, Tina; Anastassiadis, Konstantinos; Spitzer, Jessica; Hardt, Stefan E.; Schöler, Hans; Feitsma, Harma; Rottbauer, Wolfgang; Blum, Martin; Meijlink, Frits; Rappold, G (2007-04-10). "Targeted Mutation Reveals Essential Functions of the Homeodomain Transcription Factor Shox2 in Sinoatrial and Pacemaking Development". Circulation. 115 (14): 1830–1838. doi:10.1161/CIRCULATIONAHA.106.637819. ISSN 0009-7322. PMID 17372176.
  • Berkel, Simone; Marshall, Christian R.; Weiss, Birgit; Howe, Jennifer; Roeth, Ralph; Moog, Ute; Endris, Volker; Roberts, Wendy; Szatmari, Peter; Pinto, Dalila; Bonin, Michael; Riess, Angelika; Engels, Hartmut; Sprengel, Rolf; Scherer, Stephen W.; Rappold, GA (2010-06-01). "Mutations in the SHANK2 synaptic scaffolding gene in autism spectrum disorder and mental retardation". Nature Genetics. 42 (6): 489–491. doi:10.1038/ng.589. ISSN 1546-1718. PMID 20473310.
  • Bacon, C; Schneider, M; Le Magueresse, C; Froehlich, H; Sticht, C; Gluch, C; Monyer, H; Rappold, G A (2015-05-01). "Brain-specific Foxp1 deletion impairs neuronal development and causes autistic-like behaviour". Molecular Psychiatry. 20 (5): 632–639. doi:10.1038/mp.2014.116. ISSN 1359-4184. PMC 4419151. PMID 25266127.

References

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  1. ^ a b c d e f g h "CV Prof. Dr. Gudrun Rappold - Universität Heidelberg". www.marsilius-kolleg.uni-heidelberg.de. Retrieved 2024-05-02.
  2. ^ a b c d e f g Yumpu.com. "Prof. Dr. Gudrun Rappold Department of Human Molecular Genetics ..." yumpu.com. Retrieved 2024-05-02.
  3. ^ Cooke, Howard J.; Brown, William R. A.; Rappold, Gudrun A. (1985-10-24). "Hypervariable telomeric sequences from the human sex chromosomes are pseudoautosomal". Nature. 317 (6039): 687–692. Bibcode:1985Natur.317..687C. doi:10.1038/317687a0. ISSN 0028-0836. PMID 2997619.
  4. ^ Rappold, G. A.; Stubbs, L.; Labeit, S.; Crkvenjakov, R. B.; Lehrach, H. (1987-07-01). "Identification of a testis-specific gene from the mouse t-complex next to a CpG-rich island". EMBO Journal. 6 (7): 1975–1980. doi:10.1002/j.1460-2075.1987.tb02460.x. PMC 553585. PMID 3653077.
  5. ^ "All Funding Programmes". www.dfg.de. Retrieved 2024-05-02.
  6. ^ a b c "Sen.-Prof. Dr. Gudrun Rappold" (PDF). medizinische-fakultaet-hd.uni-heidelberg.de.
  7. ^ a b c "Rappold G - Search Results - PubMed". PubMed. Retrieved 2024-05-02.
  8. ^ a b "Universitätsklinikum Heidelberg: Universitätsklinikum Heidelberg". www.klinikum.uni-heidelberg.de. Retrieved 2024-05-02.
  9. ^ Lipphardt, Veronika; Surdu, Mihai; Ellebrecht, Nils; Pfaffelhuber, Peter; Wienroth, Matthias; Rappold, Gudrun A. (2021-11-18). "Europe's Roma people are vulnerable to poor practice in genetics". Nature. 599 (7885): 368–371. Bibcode:2021Natur.599..368L. doi:10.1038/d41586-021-03416-3. ISSN 0028-0836. PMID 34789896.
  10. ^ Imbler, Sabrina (2021-11-17). "The DNA of Roma People Has Long Been Misused, Scientists Reveal". The New York Times. ISSN 0362-4331. Retrieved 2024-05-02.
  11. ^ "Albinism - Just a gene". albinism-justagene.com. Retrieved 2024-05-02.
  12. ^ "Albinismus – nur ein Gen". Klaus Tschira Stiftung (in German). Retrieved 2024-05-02.
  13. ^ ""Nur ein Gen": Heidelberger Forscherin will Gewalt gegen Menschen mit Albinismus stoppen". Badische Neueste Nachrichten (in German). 2022-10-03. Retrieved 2024-05-02.
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