Prof. Dr. rer. nat. Bernhard Horsthemke

Direktor des Instituts für Humangenetik
Universität Duisburg-Essen
Anschrift: Institut für Humangenetik
Universität Duisburg-Essen
Hufelandstrasse 55
45122 Essen

Tel.: +49 201 7234556
Fax: +49 201 7235900



Curriculum vitae

Bernhard Horsthemke, Ph.D., is Professor and Chair of Human Genetics at the University of Duisburg-Essen and Director of the Institute of Human Genetics at the University Hospital Essen. After having received a degree in chemistry and his PhD from the Technical University of Berlin, he performed postdoctoral studies in molecular human genetics at St. Mary’s Hospital Medical School, London, UK. He then moved to Essen and started his own research lab. In 2004 he received the Award of the European Society of Human Genetics for his work on imprinting mechanisms in the Angelman and Prader-Willi syndromes. In the same year he was elected into the German Academy of Sciences LEOPOLDINA. In 2015 he received the Medal of Honour of the German Society of Human Genetics. His main research interest is the role of genetic and epigenetic variation in human disease with a major focus on genomic imprinting.

Important publications

Wallner S, Schröder C, Leitão E, Berulava T, Haak C, Beißer D, Rahmann S, Richter AS, Manke T, Bönisch U, Arrigoni L, Fröhler S, Klironomos F, Chen W, Rajewsky N, Müller F, Ebert P, Lengauer T, Barann M, Rosenstiel P, Gasparoni G, Nordström K, Walter J, Brors B, Zipprich G, Felder B, Klein-Hitpass L, Attenberger C, Schmitz G, Horsthemke B (2016) Epigenetic dynamics of monocyte to macrophage differentiation. Epigenetics and Chromatin, in press.

Grothaus K, Kanber D, Gellhaus A, Mikat B, Kolarova J, Siebert R, Wieczorek D, Horsthemke B (2016) Genome-wide methylation analysis of retrocopy associated CpG islands and their genomic environment. Epigenetics 11:216-26.

Laurentino S, Beygo J, Nordhoff V, Kliesch S, Wistuba J, Borgmann J, Buiting K, Horsthemke B, Gromoll J (2015) Epigenetic germline mosaicism in infertile men. Hum Mol Genet 24:1295-304.

Rademacher K, Schröder C, Kanber D, Klein-Hitpass L, Wallner S, Zeschnigk M, Horsthemke B (2014) Evolutionary origin and methylation status of human intronic CpG islands that are not present in mouse. Genome Biol Evol 12:1579-88.

Beygo, J., Citro, V., Sparago, A., De Crescenzo, A., Cerrato, F., Heitmann, M., Rademacher, K., Guala, A., Enklaar, T., An-ichini, C., Cirillo Silengo M., Graf N., Prawitt D., Cubellis M.V., Horsthemke, B., Buiting K., Riccio A. (2013). The molecular function and clinical phenotype of partial deletions of the IGF2/H19 imprinting control region depends on the spatial arrange-ment of the remaining CTCF-binding sites. Hum Mol Genet 22: 544-557.