Professor Dr Bernhard Horsthemke
- Section Human Genetics and Molecular Medicine
- Location Essen, Germany
- Election year 2004
Research
Bernhard Horsthemke has made major contributions to the field of human genetics. His group has developed microcloning techniques for the analysis of specific chromosomal regions and identified several disease genes. A major focus of his work at the Institut für Humangenetik in Essen for the past twenty years has been the study of epimutations in human disease. His group was the first to demonstrate that tumour suppressor genes cannot only be inactivated by DNA mutations, but also by DNA methylation, and that defects in genomic imprinting lead to recognizable syndromes. His group then pioneered the use of DNA methylation testing in clinical practice. Based on the study of familiar cases of imprinting disorders, he developed the concept of an imprinting centre, which controls the domain-wide establishment and maintenance of genomic imprints.
Career
- since 2001 Director, Institute of Human Genetics, University Hospital Essen, Germany
- since 2000 Full Professor of Human Genetics, University Duisburg-Essen, Germany
- 1992-2000 Associate Professor of Human Genetics, University Essen, Germany
- 1989 Habilitation (Human Genetics), University Essen , Germany
- 1986-1992 Assistant Professor, University Essen, Germany
- 1984-1986 Postdoc at St. Mary's Hospital, London, UK
- 1982 PhD, Technical University Berlin, Germany
- 1972-1978 Study of Chemistry, Technical University Berlin, Germany
Functions
- since 2012 Member of the DFG review board
- 2010-2012 Vicepresident, German Society of Human Genetics
- 1998-2000 Vicepresident, German Society of Human Genetics