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Prof. Dr. Regina Betz

Member, Steering-Committee Member

Institute of Human Genetics

Medical Faculty, University of Bonn University Hospital of Bonn Sigmund-Freud-Strasse 25 53127 Bonn

regina.betz@uni-bonn.de

+49 228 28751023

Website

The aim of our research is the identification and functional characterization of genes for monogenic and genetically com-plex hair loss disorders with a major focus on the autoimmune disorder alopecia areata (AA). We have the largest sample of AA patients available worldwide, which includes a current total of more than 2.200 individuals of middle European origin. We have been able to demonstrate the contribution of the HLA-complex and the genes PTPN22, TRAF1/C5 , CTLA4, IL13 and KIAA0350 to the disease risk using candidate gene studies. By the use of genome-wide association studies, meta-analyses, immunochips and functional studies, we just recently identified HLA-DR as a key etiologic driver for AA as well as two loci outside the HLA-region: ACOXL/BCL2L11 and GARP. Future analyses and functional studies will contribute to a comprehensive understanding of AA.

Regina Betz

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Recent publications

  • First East Asian case of uncombable hair syndrome.

    Journal der Deutschen Dermatologischen Gesellschaft = Journal of the German Society of Dermatology : JDDG

    Authors: Ye Li, Xing Xiong, Nicole Cesarato, Maria Wehner, F Buket Basmanav, Regina C Betz

  • Genexpressionsprofile beim Porokarzinom deuten auf heterogene Tumorentwicklung hin und untermauern Porome als Vorläuferläsionen

    Journal der Deutschen Dermatologischen Gesellschaft = Journal of the German Society of Dermatology : JDDG

    Authors: Svenja Holst, Anna K Weber, Friedegund Meier, Jörg Otte, Patrick Petzsch, Julia Reifenberger, Thorsten Wachtmeister, Dana Westphal, Mirjana Ziemer, Wasco Wruck, James Adjaye, Regina C Betz, Arno Rütten, Harald M Surowy, Silke Redler

  • Next-generation phenotyping integrated in a national framework for patients with ultrarare disorders improves genetic diagnostics and yields new molecular findings.

    Nature genetics

    Authors: Axel Schmidt, Magdalena Danyel, Kathrin Grundmann, Theresa Brunet, Hannah Klinkhammer, Tzung-Chien Hsieh, Hartmut Engels, Sophia Peters, Alexej Knaus, Shahida Moosa, Luisa Averdunk, Felix Boschann, Henrike Lisa Sczakiel, Sarina Schwartzmann, Martin Atta Mensah, Jean Tori Pantel, Manuel Holtgrewe, Annemarie Bösch, Claudia Weiß, Natalie Weinhold, Aude-Annick Suter, Corinna Stoltenburg, Julia Neugebauer, Tillmann Kallinich, Angela M Kaindl, Susanne Holzhauer, Christoph Bührer, Philip Bufler, Uwe Kornak, Claus-Eric Ott, Markus Schülke, Hoa Huu Phuc Nguyen, Sabine Hoffjan, Corinna Grasemann, Tobias Rothoeft, Folke Brinkmann, Nora Matar, Sugirthan Sivalingam, Claudia Perne, Elisabeth Mangold, Martina Kreiss, Kirsten Cremer, Regina C Betz, Martin Mücke, Lorenz Grigull, Thomas Klockgether, Isabel Spier, André Heimbach, Tim Bender, Fabian Brand, Christiane Stieber, Alexandra Marzena Morawiec, Pantelis Karakostas, Valentin S Schäfer, Sarah Bernsen, Patrick Weydt, Sergio Castro-Gomez, Ahmad Aziz, Marcus Grobe-Einsler, Okka Kimmich, Xenia Kobeleva, Demet Önder, Hellen Lesmann, Sheetal Kumar, Pawel Tacik, Meghna Ahuja Basin, Pietro Incardona, Min Ae Lee-Kirsch, Reinhard Berner, Catharina Schuetz, Julia Körholz, Tanita Kretschmer, Nataliya Di Donato, Evelin Schröck, André Heinen, Ulrike Reuner, Amalia-Mihaela Hanßke, Frank J Kaiser, Eva Manka, Martin Munteanu, Alma Kuechler, Kiewert Cordula, Raphael Hirtz, Elena Schlapakow, Christian Schlein, Jasmin Lisfeld, Christian Kubisch, Theresia Herget, Maja Hempel, Christina Weiler-Normann, Kurt Ullrich, Christoph Schramm, Cornelia Rudolph, Franziska Rillig, Maximilian Groffmann, Ania Muntau, Alexandra Tibelius, Eva M C Schwaibold, Christian P Schaaf, Michal Zawada, Lilian Kaufmann, Katrin Hinderhofer, Pamela M Okun, Urania Kotzaeridou, Georg F Hoffmann, Daniela Choukair, Markus Bettendorf, Malte Spielmann, Annekatrin Ripke, Martje Pauly, Alexander Münchau, Katja Lohmann, Irina Hüning, Britta Hanker, Tobias Bäumer, Rebecca Herzog, Yorck Hellenbroich, Dominik S Westphal, Tim Strom, Reka Kovacs, Korbinian M Riedhammer, Katharina Mayerhanser, Elisabeth Graf, Melanie Brugger, Julia Hoefele, Konrad Oexle, Nazanin Mirza-Schreiber, Riccardo Berutti, Ulrich Schatz, Martin Krenn, Christine Makowski, Heike Weigand, Sebastian Schröder, Meino Rohlfs, Katharina Vill, Fabian Hauck, Ingo Borggraefe, Wolfgang Müller-Felber, Ingo Kurth, Miriam Elbracht, Cordula Knopp, Matthias Begemann, Florian Kraft, Johannes R Lemke, Julia Hentschel, Konrad Platzer, Vincent Strehlow, Rami Abou Jamra, Martin Kehrer, German Demidov, Stefanie Beck-Wödl, Holm Graessner, Marc Sturm, Lena Zeltner, Ludger J Schöls, Janine Magg, Andrea Bevot, Christiane Kehrer, Nadja Kaiser, Ernest Turro, Denise Horn, Annette Grüters-Kieslich, Christoph Klein, Stefan Mundlos, Markus Nöthen, Olaf Riess, Thomas Meitinger, Heiko Krude, Peter M Krawitz, Tobias Haack, Nadja Ehmke, Matias Wagner

All publications by Prof. Dr. Regina Betz