Investigating Human Genetic Disorders

Overview & Concepts

This activity is designed to provide students with a greater depth of understanding of the causes of human genetic disorders. It will also take  students through an exploration of the processes that can be used by physicians and geneticists on quest for medical diagnoses and treatments by utilizing various online databases.

Grade Level: 

Concepts Covered: 

Genetics, DNA sequence, protein function, OMIM, BLAST 

Prior Knowledge Required: 

Modes of inheritance, Mutations (substitution, deletion, insertion, frame-shift, chromosomal), Karyotype, Nondisjunction

Activity Notes

Days to Teach: 

Online research and worksheet ~40 minutes

Materials: 

  • Worksheets
  • Computers with Internet access 

Teaching Tips / Activity Overview: 

  1. Objectives:
    1. Students will link specific human genetic disorders to specific genes and types of mutations.
    2. Students will connect genes to protein function and provide potential medical treatments based on this relationship.
    3. Students will learn to use online databases such as OMIM and Genome Sequencer to find information relevant to specific genes and disorders.
    4. Students will use gene maps to locate specific genes of interest.
  2. Give students a list of human genetic disorders to choose from or assign them a human genetic disorder, but be sure that all disorders are caused by mutations in one or two single genes and are not due to nondisjunction. Possible human genetic disorders include but certainly are not limited to: sickle cell anemia, fragile x syndrome, autism, achondroplasia, cystic fibrosis, thalassemia, hemophilia, color blindness, Duchenne muscular dystrophy, hemochromatosis, Marfan syndrome, neurofibromatosis, Huntington's disease, Parkinson's disease, phenylkentonuria, Type 1 gluteric acidemia, osteogenesis imperfecta, progeria, Tay-Sachs, and severe combined immunodeficiency.
  3. Hand out the Human Genetic Disorders student sheeet (see attachments) and allow students to work through it.
  4. Students may have difficulty initially locating their gene's position in the Genome Browser gene map. The gene of interest is indicated by a red marking along the map.

Assessment: 

  • Pre - observation, questioning, discussion, exam on basic genetics
  • Post - discussion, activity worksheets, exam or quiz

Extensions: 

  • Students could be assigned a general research project on their genetic disorder prior to this lesson. This research project could include writing a paper and giving an oral report on the disorder and include information such as basic genetic cause, symptoms, targeted people groups, treatments, etc.
  • Provide a medical problem solving case where students are given a patient's symptoms and some key genetic information and need to go through the process of using OMIM, Genome Sequencers, and BLAT or BLAST to diagnose the patient and brainstorm some possible treatments.

Resources: 

Acknowledgements: 

These teacher notes and resources were produced by Rachel Hanner. 

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