GEN3051 - Medical and Forensic Genetics

General Unit Information

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Advances in DNA sequencing and gene editing technologies are leading to rapid improvements in the diagnosis, prevention and treatment of disease. These developments are paving the way towards a future of personalised medicine, where each individual is managed according to their specific genetic make-up.  This unit explores the theoretical basis and application of genetic and genomic approaches to both medicine and forensics. Topics include genetic screening, clinical diagnostics, gene mapping, molecular pathology, genetic multi-factorial disease, gene therapy and DNA profiling. Practical sessions will include mapping of disease loci and its application to risk analysis, critical examination of recent literature, investigation of genetic disorders, genetic testing for disease mutations, and forensic profiling.


Outcomes

On completion of this unit students will be able to:

  1. Explain the application of modern genetic techniques such as gene mapping, genome-wide association studies and individual genome-sequencing to: i) the characterisation, diagnosis and treatment of simple and complex human diseases; and ii) the identification of individuals and relationships between individuals by forensic genetics;
  2. Describe how variations in the DNA sequence of a gene can result in changes in gene function that ultimately lead to disease symptoms and explain how improved understanding of this molecular pathology can aid in the treatment of disease, and illustrate the value of model organisms in investigating the molecular pathology of human diseases;
  3. Demonstrate high-level skills in data collection, analysis, interpretation and presentation, and apply these in written scientific reports and oral presentations;
  4. Apply advanced problem-solving skills to issues of medical and forensic genetics;
  5. Critically evaluate and summarise new discoveries from the scientific literature in medical and forensic genetics.

Specific Unit Information

Coordinators
NamesProf Rob Bryson-Richardson (Clayton Campus)Dr Lee Wai Leng (Monash University Malaysia)
E-mailRobert.Bryson-Richardson@monash.edulee.wai.leng@monash.edu
Office location18Inn (Bld 17) - Rm 3094-8-37 (Bld 4, Level 8, Room 37)
Office hoursBy appointment - please e-mail 
Technical coordinators
NamesChrista Meek
E-mailChrista.Meek@monash.edu
Office location18Inn (Bld 17) - Rm 337 
Textbooks
RecommendedHuman Molecular Genetics, Strachan, T., & Read, A. P. (2019). Human Molecular Genetics (Fifth edition.). CRC Press.
Genetics in Medicine, Nussbaum, R. L., McInnes, R. R., & Willard, H. F. (2016). Thompson & Thompson Genetics in medicine (Eighth edition). Saunders Elsevier.
Program for 2026
Handbook EntryGEN3051 - Synopsis, Assessment & Prerequisites 
ScheduleGEN3051 - Lecture & Laboratory Schedule for 2026
Important links
Science FacultyInformation for Current Students 
UniversityInformation for Students - Timetables, Exam, Semester Dates, more.....