Prof. Dr. med. Gabriele Gillessen-Kaesbach

Direktorin des Instituts für Humangenetik
Sektion für Funktionelle Genetik am Institut für Humangenetik
Universität zu Lübeck
Ratzeburger Allee 160
23538 Lübeck
Tel.: +49 451 5002620
Fax: +49 451 5004187

E-Mail: G.Gillessen@uksh.de
www: http://www.humangenetik.uni-luebeck.de/

 

 

Curriculum vitae

Gabriele Gillessen-Kaesbach has studied medicine at Louis Pasteur University in Strasbourg, at Ruhr University Bochum and at the University of Duisburg-Essen. From 1980 to 1986, she completed her medical specialty training as a paediatrician at the Clinic for Child and Adolescent Medicine of Essen University Hospital. From 1986 to 1993, she was an assistant professor, from 1993 to 2006, assistant medical director and head of clinical genetics at the Institute for Human Genetics of Essen University Hospital. In 1995, she was recognised as a medical specialist in human genetics. In 2006, she took over the directorship of the Lübeck Institute for Human Genetics at Lübeck University.
Having obtained her medical research doctorate in 1986, academic habilitation for human genetics followed in 1997, with the topic “Clinical and Genetic Aspects of Prader-Willi syndrome”. The main focus of her work is clinical genetics, especially dysmorphology, Cornelia-de-Lange syndrome, skeletal and imprinting diseases. Besides questions of clinical genetics, such as genotype-phenotype correlation, the identification of genes and modifying factors for syndromic conditions are also focal points of her scientific interest. From 2010 to 2013, she was vice president for research at Lübeck University. Since 2016, she has been president of the German Society for Human Genetics.

Important publications

Deardorff MA, Bando M, Nakato R, Watrin E, Itoh T, Minamino M, Saitoh K, Komata M, Katou Y, Clark D, Cole KE, De Baere E, Decroos C, Tyshchenko N, Ernst S, Frances L, Gyftodimou Y, Hirashima K, Hullings M, Ishikawa Y, Jaulin C, Kaur M, Kiyono T, Lombardi PM, Magnaghi-Jaulin L, Mortier GR, Nozaki N, Petersen M, Seimiya H, Siu VM, Suzuki Y, Takagaki K, Wilde JJ, Willems P, Prigent C, Gillessen-Kaesbach G, Christianson DW, Kaiser FJ, Jackson L, Hirota T, Krantz ID, Shirahige K (2012). HDAC8 mutations in Cornelia de Lange syndrome affect the cohesin acetylation cycle. Nature 489(7415):313-317.

Kaiser FJ, Ansari M, Braunholz D, Gil-Rodríguez MC, Decroos C, Wilde JJ, Fincher CT, Kaur M, Bando M, Amor DJ, Atwal PS, Bahlo M, Bowman CM, Bradley JJ, Brunner HG, Clark D, Del Campo M, Di Donato N, Diakumis P, Dubbs H, Dyment DA, Eckhold J, Ernst S, Ferreira JC, Francey LJ, Gehlken U, Guillén-Navarro E, Gyftodimou Y, Hall BD, Hennekam R, Hudgins L, Hullings M, Hunter JM, Yntema H, Innes AM, Kline AD, Krumina Z, Lee H, Leppig K, Lynch SA, Mallozzi MB, Mannini L, McKee S, Mehta SG, Micule I; Care4Rare Canada Consortium, Mohammed S, Moran E, Mortier GR, Moser JA, Noon SE, Nozaki N, Nunes L, Pappas JG, Penney LS, Pérez-Aytés A, Petersen MB, Puisac B, Revencu N, Roeder E, Saitta S, Scheuerle AE, Schindeler KL, Siu VM, Stark Z, Strom SP, Thiese H, Vater I, Willems P, Williamson K, Wilson LC; University of Washington Center for Mendelian Genomics, Hakonarson H, Quintero-Rivera F, Wierzba J, Musio A, Gillessen-Kaesbach G, Ramos FJ, Jackson LG, Shirahige K, Pié J, Christianson DW, Krantz ID, Fitzpatrick DR, Deardorff MA. (2014). Loss of function HDAC8 mutations cause a phenotypic spectrum of Cornelia de Lange syndrome-like features, ocular hypertelorism, large fontanelle and X-linked inheritance. Hum Mol Genet 23(11):2888-2900.

Hüning I, Gillessen-Kaesbach G (2014). Fibrodysplasia Ossificans Progressiva: Clinical Course, Genetic Mutations and Genotype-Phenotype Correlation. Mol Syndromol 5:201-211.

Hussain MS, Battaglia A, Szepanski S, Kaygusuz E, Toliat MR, Altmüller J, Thiele H, Nürnberg G, Yigit G, Tinschert S, Clayton-Smith Jill, Vasudevan P, Urquhart JE, Donnai D, Fryer A, Brancati F, Dobbie A, Śmigiel R, Gillessen-Kaesbach G, Wollnik B, Noegel AA, Newman WG, Nürnberg P. (2014). Mutations in CKAP2L, the Human Ortholog of the Mouse Radmis Gene, Cause Filippi Syndrome. Am J Hum Genet 95(5):622-632.

Symoens S, Barnes AM, Gistelinck C, Malfait F, Guillemyn B, Steyaert W, Syx D, D’hondt S, Biervliet M, De Backer J, Witten EP, Leikin S, Makareeva E, Gillessen-Kaesbach G, Huysseune A, Vleminckx K, Willaert A, De Paepe A, Marini JC, Coucke PJ. (2015). Genetic Defects in TAPT1 Disrupt Ciliogenesis and Cause a Complex Lethal Osteochondrodysplasia. Am J Hum Genet 97(4):521-34.

Busche A, Hehr U, Sieg P, Gillessen-Kaesbach G. (2016). Van der Woude and Popliteal Pterygium Syndromes: Broad intrafamilial variability in a three generation family with mutation in IRF6. Am J Med Genet A. 170(9):2404-7.