Research Matrix for Genetic Disease

A systems-based concept map for understanding genetic diseases


“Systems thinking” is considered an important skill for genetics and cell biology. Many students struggle to connect biological concepts across molecular, organism and population levels.

This activity models the use of a systems matrix for researching and conceptualising genetic disease. Use of the matrix is taught through three scaffolded case studies. In the third activity, students select a genetic disease and research its cause and effects, beginning with some suggested links and then undertaking independent research to complete the systems matrix. Skills relating to in-text referencing are also introduced. This activity can form the initial stages of a depth study into a genetic disease or be used alone to build understanding of genetic disease, systems thinking and research skills.

The activity also includes a Genetic Disease Resource Guide, which outlines a selection of genetic diseases along with links for students to use as a starting point for independent research (for case study 3 and/or other research tasks).


A full teacher guide is available for this activity. It includes an exemplar of the matrix based on Sickle Cell Disease. Teachers can email from a school email address to gain access.

If you are interested in trialling this resource in your classroom and providing feedback, please email

Syllabus connections

HSC Biology NSW


  • model the process of polypeptide synthesis, including:
    • analysing the function and importance of polypeptide synthesis
    • assessing how genes and environment affect phenotypic expression
  • investigate the structure and function of proteins in living things
  • collect, record and present data to represent frequencies of characteristics in a population, in order to identify trends, patterns, relationships and limitations in data

Genetic Change

  • compare the causes, processes and effects of different types of mutation

Causes and Responses of Non-infectious Diseases

  • investigate the causes and effects of non-infectious diseases in humans, including but not limited to:
    • genetic diseases
  • investigate the treatment/management, and possible future directions for further research, of a non-infectious disease using an example from one of the non-infectious diseases categories listed above    

Conducting Investigations

Processing Data and Information

Analysing Data and Information



Assumed Knowledge

  • DNA and polypeptide synthesis

  • Types of mutation

  • Mendelian inheritance (dominant/recessive, carriers etc)