Gudrun Rappold

Prof. Dr. Gudrun Rappold

Gudrun A. Rappold (born August 27, 1954 in Heilbronn ) is a German geneticist and director of the Department of Molecular Human Genetics at Heidelberg University .

Life

After studying biosciences in Heidelberg , Konstanz and Stanford , USA , she did her doctorate in 1984 with Thomas Cremer / Friedrich Vogel at the University of Heidelberg on the role of human sex chromosomes . From 1985 she was a post-doctoral student at the Medical Research Council (MRC) Mammalian Genome Unit at Howard Cooke in Edinburgh , Scotland . Further research stays took her to the European Molecular Biology Laboratory ( EMBL ) in Heidelberg and the Imperial Cancer Research Fund (ICRF) to Hans Lehrach in London . From 1990 she was able to set up her own research group at the Institute for Human Genetics in Heidelberg, funded by the Gerhard Hess Program of the German Research Association . She completed her habilitation in 1993 at the University of Heidelberg and was qualified to teach human genetics; In 1998 she acquired the additional qualification as a specialist in human genetics (analogous to a specialist in human genetics). Since 2003 she has been a full professor and holder of the newly created chair for molecular human genetics at the Medical Faculty of the University of Heidelberg and a co-opted member of the Faculty of Biosciences.

research

The focus is on research into the molecular mechanisms of genetic developmental disorders. A particular focus is on neurodevelopmental disorders and the genetic cause of intellectual disability and autism , but also on the regulation of transcription factors in growth and development . In addition to genome editing, cell culture- based methods and induced pluripotent stem cells and animal models are used for gene identification and functional testing . Rappold has published over 200 original papers, 50 reviews and book chapters, as well as a monograph .

Awards and memberships

Rappold is a member of the Center for Rare Diseases (ZSE), the Interdisciplinary Center for Neurosciences (IZN), the German Center for Cardiovascular Diseases (DZHK) and the CellNetworks Cluster of Excellence . She works in various faculty and inter-faculty commissions and is a member of the Senate Committee of Heidelberg University for the Olympic Morata program and gender equality issues. She was on the advisory board of the German and European Society for Human Genetics and the Telethon Foundation, Italy (2004–2007), Fondazione Cariplo, Italy (2011–2013) and Co-Chair and member of the ERC expert panel LS2 in Brussels , Belgium (2009–2015 ). She has been a Fellow of the Marsilius Kolleg since 2013 and has been a member of the Advisory Committee of the Schaller Foundation since 2015. She is a reviewer for various scientific organizations and on the editorial board of various specialist journals . Awards include the Gerhard Hess Prize (analogous to Emmy Noether) from the German Research Foundation (1989–1994), the award for basic research from the State of Baden-Württemberg (1990) and various prizes for the research performance of employees (1997–2019). Rappold has a granted European (EP0946721), US (US7252974) and Australian patent (AU744188).

Books

Binder G and Rappold G: SHOX Deficiency Disorders - GeneReviews® - NCBI Bookshelf
Rappold G, Ross J, Blaschke R, Blum W: Understanding SHOX deficiency and its role in growth disorders TMG Healthcare Communications LTD, UK, 2002

Individual evidence

↑ Berkel, S., Marshall, CR, Weiss, B., Howe, J., Roeth, R., Moog, U., Endris, V., Roberts, W., Szatmari, P., Pinto, D., Bonin, M., Riess, A., Engels, H., Sprengel, R., Scherer, SW, Rappold, GA: Mutations in the SHANK2 synaptic scaffolding gene in autism spectrum disorder and mental retardation . In: Nature Genetics 42 (6) . 2010, p. 489-91 .
↑ Rauch, A., Wieczorek, D., Graf, E., Wieland, T., Endele, S., Schwarzmayr, T., Albrecht, B., Bartholdi, D., Beygo, J., Di Donato, N ., Dufke, A., Hempel, M., Horn, D., Hoyer, J., Joset, T., Röpke, A., Moog, U., Riess, A., Thiel, CT, Tzschach, A. , Wiesener, A., Wohlleber, E., Zweier, C., Ekici, AB, Zink, AM, Rump, A., Meisinger, C., Grallert, H., Sticht, H., Schenck, A., Engels , H., Rappold, G., Schröck, E., Wieacker, P., Riess, O., Meitinger, T., Reis, A., Strom, T. M: Range of genetic mutations associated with severe non-syndromic sporadic intellectual disability: an exome sequencing study. In: Lancet . tape 380 , no. 9854 , 2012, p. 1674-82 .
↑ Bacon, C., Schneider, M., Le Magueresse, C., Froehlich, H., Sticht, C., Gluch, C., Tucker, P., Monyer, H., Rappold, G .: Brain-specific Foxp1 deletion impairs neuronal development and causes autistic-like behavior . In: Molecular Psychiatry . tape 20 , no. 5 , 2015, p. 632-9 .
↑ Fröhlich, H., Kollmeyer, ML, Linz, VC, Stuhlinger, M., Groneberg, D., Reigl, A., Zizer, E., Friebe, A., Niesler, B., Rappold, G .: Gastrointestinal dysfunction in autism displayed by altered motility and achalasia in Foxp1 +/- mice . In: PNAS . tape 116 , no. 44 , 2019, pp. 22237-45 .
↑ Cooke, HJ, Brown, WRA, Rappold, GA: Hypervariable telomeric sequences from the human sex chromosomes are pseudoautosomal . In: Nature . tape 317 , x, 1985, pp. 687-692 .
↑ Rao, E., Weiss, B., Fukami, M., Rump, A., Niesler, B., Mertz, A., Moroya, K., Binder, G., Kirsch, S., Winkelmann, M. , Heinrich, U., Breuning, MH, Ranke, M., Rosenthal, A., Ogata, R., Rappold, GA: Pseudoautosomal deletions encompassing a novel homeobox gene cause growth failure in idiopathic short stature and Turner Syndrome . In: Nature Genetics . tape 16 , 1997, pp. 54-63 .
↑ Blaschke, RJ, Hahurij, ND, Kuijper, S., Just, S., Wisse, LJ, Deissler, K., Maxelon, T., Anastassiadis, K., Spitzer, J., Hardt, S., Schöler, H., Feitsma, H., Rottbauer, W., Blum, M., Meijlink, F., Rappold, G., Gittenberger-de Groot, AC: Targeted mutation reveals essential functions of the homeodomain transcription factor Shox2 in sinoatrial and pacemaking development . In: Circulation . tape 115 , 2007, p. 1830-1838 .
↑ Marchini, A., Ogata, T., Rappold, GA: A track record on SHOX: from basic research to complex models and therapy . In: Endocr Reviews. tape 37 , no. 4 , 2016, p. 417-48 .
↑ Montalbano, A., Juergensen, L., Roeth, R., Weiss, B., Fukami, M., Fricke-Otto, S., Binder, G., Decker, E., Nuernberg, G., Hassel, D., Rappold, GA: Retinoic acid catabolizing enzyme CYP26C1 is a genetic modifier in SHOX deficiency . In: EMBO Molecular Medicine . tape 8 , 2017, p. 1455-1469 .
↑ Prof. Dr. Rappold, Interdisciplinary Center for Neurosciences (IZN), Heidelberg University
↑ Prof. Dr. G. Rappold, Commission work in the Senate of Heidelberg University
↑ Prof. Dr. rer. nat. Gudrun Rappold Marsiliuskolleg, Heidelberg University
↑ Human Growth Gene and Short Stature Gene Region

Web links

personal data
SURNAME	Rappold, Gudrun
ALTERNATIVE NAMES	Rappold, Gudrun A.
BRIEF DESCRIPTION	German human geneticist
DATE OF BIRTH	August 27, 1954
PLACE OF BIRTH	Heilbronn

[1] Berkel, S., Marshall, CR, Weiss, B., Howe, J., Roeth, R., Moog, U., Endris, V., Roberts, W., Szatmari, P., Pinto, D., Bonin, M., Riess, A., Engels, H., Sprengel, R., Scherer, SW, Rappold, GA: Mutations in the SHANK2 synaptic scaffolding gene in autism spectrum disorder and mental retardation . In: Nature Genetics 42 (6) . 2010, p. 489-91 .

[2] Rauch, A., Wieczorek, D., Graf, E., Wieland, T., Endele, S., Schwarzmayr, T., Albrecht, B., Bartholdi, D., Beygo, J., Di Donato, N ., Dufke, A., Hempel, M., Horn, D., Hoyer, J., Joset, T., Röpke, A., Moog, U., Riess, A., Thiel, CT, Tzschach, A. , Wiesener, A., Wohlleber, E., Zweier, C., Ekici, AB, Zink, AM, Rump, A., Meisinger, C., Grallert, H., Sticht, H., Schenck, A., Engels , H., Rappold, G., Schröck, E., Wieacker, P., Riess, O., Meitinger, T., Reis, A., Strom, T. M: Range of genetic mutations associated with severe non-syndromic sporadic intellectual disability: an exome sequencing study. In: Lancet . tape 380 , no. 9854 , 2012, p. 1674-82 .

[3] Bacon, C., Schneider, M., Le Magueresse, C., Froehlich, H., Sticht, C., Gluch, C., Tucker, P., Monyer, H., Rappold, G .: Brain-specific Foxp1 deletion impairs neuronal development and causes autistic-like behavior . In: Molecular Psychiatry . tape 20 , no. 5 , 2015, p. 632-9 .

[4] Fröhlich, H., Kollmeyer, ML, Linz, VC, Stuhlinger, M., Groneberg, D., Reigl, A., Zizer, E., Friebe, A., Niesler, B., Rappold, G .: Gastrointestinal dysfunction in autism displayed by altered motility and achalasia in Foxp1 +/- mice . In: PNAS . tape 116 , no. 44 , 2019, pp. 22237-45 .

[5] Cooke, HJ, Brown, WRA, Rappold, GA: Hypervariable telomeric sequences from the human sex chromosomes are pseudoautosomal . In: Nature . tape 317 , x, 1985, pp. 687-692 .

[6] Rao, E., Weiss, B., Fukami, M., Rump, A., Niesler, B., Mertz, A., Moroya, K., Binder, G., Kirsch, S., Winkelmann, M. , Heinrich, U., Breuning, MH, Ranke, M., Rosenthal, A., Ogata, R., Rappold, GA: Pseudoautosomal deletions encompassing a novel homeobox gene cause growth failure in idiopathic short stature and Turner Syndrome . In: Nature Genetics . tape 16 , 1997, pp. 54-63 .

[7] Blaschke, RJ, Hahurij, ND, Kuijper, S., Just, S., Wisse, LJ, Deissler, K., Maxelon, T., Anastassiadis, K., Spitzer, J., Hardt, S., Schöler, H., Feitsma, H., Rottbauer, W., Blum, M., Meijlink, F., Rappold, G., Gittenberger-de Groot, AC: Targeted mutation reveals essential functions of the homeodomain transcription factor Shox2 in sinoatrial and pacemaking development . In: Circulation . tape 115 , 2007, p. 1830-1838 .

[8] Marchini, A., Ogata, T., Rappold, GA: A track record on SHOX: from basic research to complex models and therapy . In: Endocr Reviews. tape 37 , no. 4 , 2016, p. 417-48 .

[9] Montalbano, A., Juergensen, L., Roeth, R., Weiss, B., Fukami, M., Fricke-Otto, S., Binder, G., Decker, E., Nuernberg, G., Hassel, D., Rappold, GA: Retinoic acid catabolizing enzyme CYP26C1 is a genetic modifier in SHOX deficiency . In: EMBO Molecular Medicine . tape 8 , 2017, p. 1455-1469 .

[10] Prof. Dr. Rappold, Interdisciplinary Center for Neurosciences (IZN), Heidelberg University

[11] Prof. Dr. G. Rappold, Commission work in the Senate of Heidelberg University

[12] Prof. Dr. rer. nat. Gudrun Rappold Marsiliuskolleg, Heidelberg University

[13] Human Growth Gene and Short Stature Gene Region