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University Hospital Essen

location_on Essen, Germany
9.6/10 from 23 Votes

Department of Human Genetics (334481)

Bernhard Horsthemke

Prof. Dr. rer. nat.

Bernhard Horsthemke

Specialized in: human genetics

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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