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Exploring Genetics Through Genetic Disorders

Unit Overview

Exploring Genetics Through Genetic Disorders is a three-week, comprehensive genetics curriculum unit that aligns with the Next Generation Science Standards (NGSS). Through paper-based and interactive multimedia lessons, the unit engages students in using models, analyzing skill-level appropriate data from published research, establishing cause and effect relationships, and constructing explanations.


  • Complete Genetics curriculum unit
  • NGSS-aligned
  • In-depth materials for exploring more than 25 real alleles that cause 5 different genetic disorders
  • Real data, re-packaged in a way that is easy for students to work with

Suggested Sequence

The unit’s resources were designed to be used in any order, with or without outside lessons. However, we hope you will consider the suggested sequence below. It pulls together the unit’s resources in a way that builds understanding of the mechanisms connecting DNA variations—through effects on proteins, cells, tissues, and organs—to phenotypes.

Step 1: Introduce Traits


What shapes the characteristics of all living things?

Traits Foundational Content

Step 2: Introduce Genetic Disorders as Traits; Assign Alleles



Genetic disorders are also traits that vary. Individuals with the same alleles can exhibit different phenotypes.


  1. Review the following with your students:
    1. Variations in genes lead to variations in traits. Genes code for proteins that shape characteristics at the cellular, tissue, and organism levels.
    2. Genetic disorders are traits that vary, and they are influenced by the environment. Different alleles have different effects, and even people with the same alleles can have different phenotypes (characteristics).
    3. When scientists study what happens when a gene is not working correctly, they learn more about the regular function of that gene.
  2. Distribute one Lab Notebook and one unique Allele Profile to each student (or pair).
  3. Tell students that for the rest of the unit they will learn about basic concepts, then apply what they learn to their assigned allele. The Lab Notebook will be their guiding framework.
  4. Have students visit the appropriate genetic disorder page on Learn.Genetics. They should watch the video there, then use their Allele Profiles to fill in the Basic Information section of their Lab Notebooks.
  5. To help students understand that each allele profile is different, have them compare page 1 of their Allele Profile with a classmate’s.
  6. You may want to use the Demo Lab Notebook to help students understand what information they should fill in.


Teacher Guide (pdf)
Lab Notebook (fillable pdf) — One copy per student (or pair)
Demo Lab Notebook (pdf) — This has demo answers filled for cystic fibrosis allele C1

Allele Profiles — Print double-sided; each page will be a different Allele Profile. Give one page to each student (or pair).

Genetic Disorder Web Pages — (also linked from the student page on Learn.Genetics).


  • Print the alleles for each disorder on a different color. To save paper, make laminated class sets.
  • Hemophilia and hemoglobin disorders are more challenging than the others.
  • Within each genetic disorder, Allele #1 is the easiest, and they get more challenging as the numbers go up. You can find more details about each allele in the teacher guide.
  • For some disorders, Allele #6 is a bonus. These are meant for students who need an extra challenge, or after they have finished the work for another allele.
  • You can hand out the entire Lab Notebook all at once, or in sections as the class progresses through each step.

Step 3: Explore Foundational Content and Apply it to Assigned Alleles

For each section of foundational content:

  1. Complete the activities as a whole group. Follow the links for details and implementation suggestions.
  2. After finishing the activities in a section, have students complete the corresponding section in their Lab Notebooks. As noted there, they will need to refer to:
    • Their assigned Allele Profile
    • The web page for their assigned genetic disorder
    • Activities in the corresponding section of the student page on Learn.Genetics (to review as needed)

3a. Mutations and Alleles Foundational Content
GUIDING QUESTION: How did the disorder-causing allele arise?

3b. Inheritance Foundational Content
GUIDING QUESTION: How is the disorder-causing allele inherited?

3c. Protein Function Foundational Content
GUIDING QUESTION: How do genes, and the proteins they code for, cause the disorder?


Parallel section headings on (1) the student page on Learn.Genetics, (2) Allele Profiles, and (3) Lab Notebook keep students oriented.

Step 4: Other Factors


How can other genes and environmental factors influence the disorder?


  • Through proteins, the information in genes shapes characteristics at the cellular, tissue and organismal levels.
  • Environmental factors and variations in other genes interact with disease-causing alleles to produce a range of phenotypes.
  • Treatment for a disorder may include any combination of managing environmental factors, medically treating symptoms, or compensating for a missing or altered genetic factor.


  1. (optional) Revisit and discuss What is an Environmental Factor?
  2. Have students complete the Other Factors section of their Lab Notebook. As noted there, they will need to refer to:
    • Their assigned Allele Profile
    • The web page for their assigned genetic disorder

Step 5: Putting it All Together


Have students fill in the Cause and Effect section of the lab notebook, as it relates to their assigned allele. Creating these statements should help them summarize the major features of their allele and disorder.
  • Students should already have the information they need in their Lab Notebooks; they just need to find it and fill it in here.

cause and effect


Students who studied alleles of the same disorder meet and fill in the similarities and differences chart in the Symposium section of the Lab Notebook. They should be able to connect molecular-level details to observable effects at the tissue and whole-organism levels.
In comparing their alleles, students should refer to:
  • Their Cause & Effect statements
  • Their genetic disorder web page
  • Any other relevant section in their lab notebooks
Students should find that while the overall effects of the disease-causing alleles at the whole-organism level may be similar, there are also differences. For example:
  • Each allele is different at the DNA level, because they came about through different mutations. Encourage students to focus on where in their gene the mutation is, and the type of change it causes in the protein.
  • Some alleles of the same gene can affect different cell and tissue types, leading to a different set of symptoms at the organism level.
  • For all the genetic disorders, some alleles cause more severe symptoms than others.
  • There are differences in the data graphs in each Allele Profile. It may be useful to have students compare their data graphs and relate them to the one on the genetic disorder web page.


3. FINAL PROJECT (optional)

Have each disorder group share information with the whole class. Challenge students to think about why their proteins work differently.
Here are some ideas:
  • A gallery walk of the similarities and differences charts created for each disorder during the Symposium
  • A PowerPoint presentation about the disorder at the protein, cellular, tissue, organ, and organism levels, including main differences between the alleles studied
  • A "research poster" summarizing the disorder at the protein, cellular, tissue, organ, and organism levels, including main differences between the alleles
  • Oral presentations about how their assigned allele causes the disorder

final project

About This Unit


This work was supported by a Science Education Partnership Award (1R25GM021903) from the National Institute of General Medical Sciences of the National Institutes of Health. The content is solely the responsibility of the authors and does not necessarily represent the official views of the National Institutes of Health