Medical GenetiX

Medical GenetiX

Clinical and molecular aspects of human genetic disorders

Medical GenetiX is an innovative multimedia program for undergraduate medicine, biomedicine and science 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, Fragile X Syndrome, Huntington disease and beta-thalassaemia.

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 the underlying molecular basis of the condition
• Laboratory Diagnostics – DNA testing (for single-gene disorders), karyotyping (for chromosomal disorders), and pathology testing
• Counselling and Personal Stories – based on videos of counselling sessions related to a particular learning issue, with advice on counselling techniques and ethical issues

A glossary that is hyperlinked to terms used and references for further reading are provided.  New features in this edition include a printing facility and searchable contents.

Keywords: medical genetics, genetic counselling, genetic disorders, cystic fibrosis, thalassaemia, Duchenne muscular dystrophy, Fragile X Syndrome, Hungtington disease, trisomy 21, Down syndrome, trisomy 18, Edward syndrome, Klinefelter syndrome, XXY, DNA testing for genetic conditions, prenatal screening, prenatal testing, pedigrees, karyotyping

Sylvia Metcalfe is Associate Professor in Medical Genetics in the Department of Paediatrics at the University of Melbourne and Group Leader of the Genetics Education and Health Research at the Murdoch Childrens Research Institute. She has a BSc (Hons) in Biochemistry and a PhD, with a broad background in biomedical research (almost 20 years of lab research), but in recent years her focus has been on genetics education, lay and health professional understanding of genetics and population genetic screening. She coordinates and teaches genetics to students at the University of Melbourne, and tutors in the Master of Genetic Counselling.

Minimum system requirements: Minimum: 256MB RAM, 800 x 600 display, Sound Card Windows: 450MHz Intel Pentium II processor (or equivalent) and later, Win 2000/XP Mac: 500MHz PowerPC G3 and later, OS 10.3/10.4