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University Hospital Essen

location_on Essen, Germany
0/10 from 23 Votes

Department of Human Genetics ( 334481)

Bernhard Horsthemke

Prof. Dr. rer. nat.

Bernhard Horsthemke

Specialized in: human genetics

Curriculum vitae keyboard_arrow_down
  • since 2001 Director of the Institute for Human Genetics at the University Hospital Essen.
  • since 2000 Professor (C4) for human genetics at the University Hospital Essen.
  • 1992 - 2000 Professor (C3) for human genetics at the University Hospital Essen.
  • 1989 Habilitation in the field of human genetics at the University Hospital Essen.
  • 1986 - 1992 Research associate at the University Essen.
  • 1984 - 1986 Postdoctoral position at the St. Mary's Hospital London, UK.
  • 1982 Doctorate degree at the Technical University of Berlin.
  • 1972 - 1978 Studied chemistry at the Technical University of Berlin.

Project coordination, memberships

  • since 2009 Coordinator of the BMBF joint research project “Imprinting diseases”.
  • since 2008 Member of the BMBF joint research project “Adipositas”.
  • 2008 - 2008 Coordinator of the DFG priority programme “Epigenetics”.
  • 1995 - 2001 Coordinator of the DFG priority programme “Molecular dysmorphogenesis”.

The Department of Human Genetics at the University Hospital Essen offers the entire range of modern genetic diagnostics and counseling. The department specializes in diagnostics and genetic counseling of patients with syndromal diseases, chromosomal aberrations, hereditary cancer susceptibility, mental retardation, congenital deformities, congenital metabolic disorders, congenital muscular disorders, etc. The head of the department is Prof. Dr. rer. nat. Bernhard Horsthemke.

Professor Horsthemke has made an important contribution on the development of modern human genetics. The research group under his lead has developed microcloning techniques for the analysis of specific chromosome regions and thus identified a number of disease genes. For the last 20 years, the investigation of epimutations in human diseases has been one of his main scientific priorities.

The department offers counseling services for patients with genetically-caused diseases, familial cases of congenital abnormalities or disabilities. In these cases, such diseases as metabolic disorders or cancer can be taken into consideration. Apart from that, the department also provides assistance in cases when a child displays delays in development or other noticeable difficulties (e.g., congenital heart defects, seizures, etc.), and the parents want to find out whether these abnormalities are caused by genetically-related clinical pictures.

The range of services of the department:

  • Genetic counseling
  • Chromosomal analysis. Selected indications:
    • Mental retardation
    • Familial chromosomal defect
    • Recurrent abortions
    • Microsomia / macrosomia
    • Etc.
  • Molecular cytogenetics. Selected indications:
    • Numerical aberrations of gonosomes
    • Chromosomal Rearrangements
    • Microdeletion syndromes
    • Deletions and duplications of subtelomer-regions
    • Etc.
  • Molecular genetics. Diseases:
    • Angelman syndrome
    • Beckwith-Wiedemann syndrome
    • Prader-Willi syndrome
    • Silver-Russell syndrome
    • Transient neonatal diabetes mellitus
    • Temple syndrome / Kagami-Ogata syndrome
    • Retinoblastoma
    • Uveal melanoma
    • Etc.

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