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The Institute of Human Genetics and Anthropology concentrates primarily on hereditary transmission in humans. This particularly includes research into the causes of hereditary diseases. Without ousting the classic methods of analysing chromosomes and their disorders, molecular genetics has ultimately moved into the foreground due to the enormous increase in findings at the molecular level. In practice, human genetics can be subdivided into basics research and patient care.

Modern anthropology covers issues of evolution; in particular, the Institute performs microevolutive studies on different populations.


Patient Care

The basic task of the Institute’s staff involves genetic family consulting concerning all genetic diseases. The key focus is on the field of syndromic diseases and genetic predispositions towards cancer. The Institute offers human-genetic consulting prior to any molecular-genetic or cytogenetic examination, informing patients about the possibilities and limits of such examinations. It is only then that patients opt for or against an examination.

Cytogenetic examinations are available in two phases: prenatal and postnatal. In prenatal chromosomal analysis, human geneticists analyse infantile chromosomes and biochemical parameters at the prenatal stage. In postnatal chromosomal analysis, they search for chromosomal causes for different clinical pictures.

Only a small percentage of genetic diseases is attributable to a change which can be evidenced by means of cytogenetic examination. The chromosomal analyses performed at the Institute reflect the latest standard and can often detect even minimal changes.

Cytogenetic examinations of a patient’s tumour cells are particularly important in the case of leukaemia, since the evidence of specific chromosomal changes are characteristic for certain leukaemia subtypes. The diagnosis and therapy of these diseases depends on the evidence of such changes.

In many instances, for the purpose of evidencing even minimal changes, the Institute’s staff perform fluorescence in situ hybridisation (FISH) using gene-specific or chromosome-specific DNA samples. These complicated analyses are only available at very few locations in Germany. The interpretation of analytical results also requires a high level of specialist know-how.

In the field of molecular genetics, the scientists from the Institute of Human Genetics and Anthropology have specialised in a few clinical pictures for the purpose of being able to offer maximum high-qualified, complete and informative diagnostics. These key areas are as follows:

Genetic predisposition towards tumours, infertility, renal diseases, disorders in sexual development and mental underdevelopment.

In Düsseldorf, optimum clinical, psychological and human-genetic care is provided for patients with hereditary colon and mammary carcinomas, the former in cooperation with the Clinic for General and Accident Surgery, the Institute of Pathology, the Gynaecological Clinic and the Clinical Institutions for Psychosomatic Medicine and Psychotherapy and the latter in cooperation with the Gynaecological Clinic.


Research and Teaching

The Institute offers seminars on human genetics and anthropology as well as lectures and practicals. A considerable percentage of teaching involves mentoring undergraduates preparing for graduation and postgraduates taking a doctor’s degree.

Molecular-genetic research focuses on the research of genes which are involved in the development of human tumours. The Institute’s research staff are concerned, for example, with the mutation of the WT1 gene which is encountered in Wilms tumours und the Denys-Drash syndrome.

The WT1 gene is also a major causal factor in the development of a form of nephrotic syndrome whose development is being investigated by researchers within the context of an externally funded project.

Another of the Institute’s projects involves research of prostate carcinomas. The Institute’s staff are engaged in identifying new genes whose activity becomes lost as the tumour progresses. Such genes are referred to as tumour suppressor genes, and their identification could facilitate new therapeutic approaches. The Institute is performing this project in cooperation with the Urological Clinic and the Institute of Pathology.

The Institute is planning to analyse the myelodysplastic syndrome, a form of leukaemia. This project will be performed together with the Clinic for Haematology, Oncology and Clinical Immunology.

Another molecular-genetic project which the Institute’s scientists are starting in cooperation with the Clinic for Haematology, Oncology and Clinical Immunology is concerned with molecular changes in multiple myelomas.

The Institute is engaged in further studies on exposure and stress levels in connection with the disposal of old warfare agent stocks in the State Warfare Agent Disposal Authority’s munition destruction facilities in North Rhine-Westphalia.

Anthropological research at Düsseldorf University Hospital covers population-genetic analyses on South-East Europe’s aromunian populations which are performed together with the Ulm Institute of Human Genetics and Anthropology and the Düsseldorf Institute of Forensic Medicine and genetic studies on migration from Eastern Europe to North Rhine-Westphalia in cooperation with the Institute of Forensic Medicine.

Furthermore, the Düsseldorf Institute of Human Genetics and Anthropology is engaged in research in the field of population genetics of DNA-PCR polymorphisms. In connection with this project, a worldwide DNA-PCR database is being set up and maintained in cooperation with the Institute of Forensic Medicine.