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Chromosomes in Medicine (March 27th-29th 2015)

Josef Loidl


In industrial countries, the by far most prevalent cause of miscarriages and stillbirths are chromosomal anomalies and heritable genetic defects. Accordingly, the largest area of applied cytogenetics and molecular genetics is the diagnosis of congenital heritable maladies and cancers. Also age-related diseases with a clear genetic basis (heart failure, diabetes, various forms of cancers) pose increasing threats to modern societies. Clinical genetics is a thriving field providing job opportunities for graduates in Molecular or Cell Genetics that do not stay in academic research.


Students of the graduate school should get a chance for interactions with medical researchers and practitioners both from public health institutions and commercial services. Insight should be provided into various areas of patient-oriented human/medical genetics and cytogenetics.

Content of the workshop
  • Genetic counselling – pedigree analysis in the making
  • Molecular and chromosomal diagnostics of congenital maladies and cancer
  • Automated chromosome analysis (demonstration)
  • Latest advances in gene therapy
  • Clinical genetics and cytogenetics going commercial
  • Assisted reproduction?
  • Ethical aspects of clinical genetics

Program and further information



The workshop depicted how basic research on chromosomes relates to modern medicine and diagnostics. Dieter Schweizer opened up the workshop with his talk about the beginnings of chromosome research in Vienna and the history of the Department of Chromosome Biology. The program continued with expert lectures about the effects of radiation on chromosomes and genetic aspects of tumor formation.


Michael Speicher (Institute of Human Genetics, Medical University Graz) gave a highly interactive talk on diagostic techniques



Special cases of chromosomal aberrations analysed by the Department of Medical Genetics and the most important aspects of genetic counseling were other topics presented and discussed.

The second day of the training was reserved for hands-on activities. Students could put together their karyograms and analyse blood samples that had been subject to ionizing radiation. Additionally, there was enough time to challenge the automated microscopy system provided by Metasystems with cells of the different model organisms the students work with.


Even if assisted by the latest software, karytoping is not too easy.

On the third and last day we left our campus and headed out to the 9th district to visit the Pathologic-Anatomical Museum Vienna inside the famous "Narrenturm". The special guided tour provided insight into parts of the collection that are usually closed to the public and ended at a nearby restaurant with the concluding seminar and joint lunch.


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