Genetics Education & Health Research

Medical GenetiX

Medical GenetiX is an innovative multimedia program in CD-ROM format for undergraduate medical and biomedical students and would also be suitable for senior secondary school students and for continuing professional education. The program 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.

An additional CD-ROM, Fragile X Syndrome integrates the genetics and clinical features of fragile X syndrome. The program covers clinical diagnosis, laboratory diagnostics, and personal perspectives. As in Medical GenetiX, this CD-ROM uses high quality media such as videos, animations and interactive images. Multiple choice questions, a glossary of terms and references are also included.

Order Medical GenetiX

Clinical and molecular aspects of human genetic disorders

About this package:

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

About the creators: 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

Order Medical GenetiX (ISBN: 0-7340-2668-4)

Order Fragile X Syndrome (ISBN: 0-734-02694-3)

A Module of Medical Genetix

About this package:

Fragile X Syndrome is a stand-alone interactive CD-ROM integrating the genetics and clinical features of Fragile X Syndrome.

It is produced by Associate Professor Sylvia Metcalfe from the University of Melbourne and Dr Jonathan Cohen from the Fragile X Alliance.

The program covers clinical diagnosis, laboratory diagnostics, and personal perspectives and includes high quality media such as videos, animations and interactive images from Australian families. Multiple choice questions, glossary of terms and references are also included.

This program will be useful for students studying human genetics, medical and biomedical courses, and for continuing professional education.

Keywords: medicine, genetics, biomedical sciences, genetic counselling, Fragile X syndrome

About the creators:
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.

Dr Jonathan Cohen is the President of Fragile X Alliance Inc a Medical Director of Fragile X Alliance Clinic and Senior Lecturer at the Department of General Practice, Monash University.

More information: http://www.fragilex.org.au

Minimum system requirements: Minimum System Requirements: 256 MB RAM, Screen Resolution 800 x 600, CD-ROM drive, sound card; PC Requirements: 450 MHZ Intel Pentium II processor (or equivalent) and later, Win 2000/Win XP; Mac Requirements: 500 MHZ PowerPC G3 and later OS 10.3/10.4

Order Fragile X Syndrome (ISBN: 0-734-02694-3)