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Clinical and Molecular Aspects of Human Genetic Disorders

The explosion of knowledge in human genetics and applications of genetic technologies has resulted in a proliferation of concepts that are often difficult to impart in the limited context of lecture-based teaching. Furthermore, although we can engage students in discussions on the social and ethical issues in genetics, there is often reluctance to participate actively in a large group.

Medical Genetix is an innovative multimedia program for undergraduate medicine and biomedicine students that presents the concepts of human genetics and heredity within the clinical context of various chromosomal and single-gene disorders. The chromosomal disorders featured are trisomy 21 (Down syndrome), trisomy 18 (Edward syndrome) and Klinefelter syndrome; and the single-gene disorders are cystic fibrosis, Duchenne muscular dystrophy, Huntington disease and beta-thalassaemia.

Building on basic molecular biology - knowledge of the structure of DNA and genes, transcription and translation is assumed - Medical Genetix presents the science of genetics and heredity in a consistent modular framework across each of the clinical disorders. The three main modules and their sections are: Clinical Diagnosis - clinical features, family histories and pedigrees (for single-gene disorders), and molecular pathogenesis, the underlying molecular basis of the condition; Laboratory Diagnostics - DNA testing (for single-gene disorders), karyotyping (for chromosomal disorders), and pathology testing; and Counselling and Ethics, based on videos of counselling sessions related to a particular learning issue, with advice on counselling techniques and ethical issues.

Medical Genetix includes interactivity through a variety of approaches: drag-and-drop exercises, self-test questions and 'rollovers' that reveal more detail, as well as role-playing to explore ethical issues of relevance to genetic counselling. Comprehensive feedback and hints are given for the exercises and tests. An on-screen glossary of terms is also available at any time. Books, articles and websites are listed as references and for further reading.
Author: Dr Sylvia Metcalfe

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