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Click & Learn Student Worksheet

Central Dogma and Genetic Medicine

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OVERVIEW

This worksheet complements the Central Dogma and Genetic Medicine Click & Learn.

PROCEDURE

As you proceed through the Click & Learn, follow the instructions below and answer the questions in the spaces

provided.

1. Let’s review! The central dogma of molecular biology refers to the process of gene expression. Write the definition of gene expression in your own words.

2. Click on the “Central Dogma” menu tab at the top of the screen. The table below outlines the steps in eukaryotic gene expression. Click on each tab or scroll through the page and briefly summarize each step below.

Gene Expression Steps

Molecules Involved What molecules and proteins are involved in this step?

Summary What happens during this step?

Transcription

RNA Splicing

mRNA Transport

Translation

Protein Processing

Genetics Published January 2018 www.BioInteractive.org Page 1 of 4https://www.hhmi.org/biointeractive/central-dogma-and-genetic-medicine

Click & Learn

Central Dogma and Genetic Medicine Student Worksheet

3. Mutations in the DNA can affect the structure and function of proteins. Some mutations may even cause genetic diseases. Scientists and doctors can intervene at different points during gene expression to develop

treatments for such genetic diseases—or genetic medicine. Let’s learn about the genetic medicines that are

being developed.

Select the “Genetic Medicine” tab located on the top right of the screen. Click on the tab corresponding to the

genetic medicine(s) that your instructor assigns to you, or scroll through the interactive and click on the pink

“+” sign labeled with that genetic medicine. Read the “Genetic Medicine” tab material, watch the video, and

read the information in the “Learn more” link. Then, complete the appropriate row(s) below.

Genetic Medicine

Short Summary Write a one-sentence summary of how this genetic medicine works.

Detailed Description Describe how this genetic medicine would be used to treat a genetic disease. (For example, mention how it would fix the disease-causing mutation and/or result in a functioning protein.)

CRISPR- Cas9

Gene Therapy

Gene Switches

Exon Skipping

RNA Interference

Small Molecule Drug

Genetics Published January 2018 www.BioInteractive.org Page 2 of 4

Click & Learn

Central Dogma and Genetic Medicine Student Worksheet

4. Now let’s learn about some of the diseases that may be treated using these genetic medicines.

Scroll through the interactive and click on the pink “+” sign that is labeled with the disease(s) that your

instructor has assigned to you. Next, click on the “Case Study” tab at the top to reveal information about the

disease. Read the “Case Study” material, watch the video, and read the information in the “Learn more” link.

Then fill in the appropriate row(s) in the table below.

Name of Disease

What are the key characteristics of the disease and whom does it affect? How can the featured genetic medicine be used to treat the disease?

Leber Congenital Amaurosis

Sickle Cell Disease

Duchenne Muscular Dystrophy

Huntington’s Disease

Cystic Fibrosis

Genetics Published January 2018 www.BioInteractive.org Page 3 of 4

Click & Learn

Central Dogma and Genetic Medicine Student Worksheet

APPLY WHAT YOU HAVE LEARNED

5. You are a researcher working on a treatment for Hutchinson-Gilford progeria syndrome, an extremely rare genetic disorder that causes accelerated aging in children. Children with progeria generally appear healthy

at birth but soon start growing more slowly than other children and lose their hair. Additional symptoms

include stiffness of joints, heart problems, and stroke. These children typically die of heart disease at an

average age of 13 years.

Progeria is caused by a mutation in a single gene, called lamin A. Scientists have identified over 1,400

mutations in the lamin A gene that result in changes in transcription, RNA splicing, and/or protein

production. Lamin A codes for a protein required for the structural support of the nuclear envelope in cells.

Without a functional protein, the nuclear envelope becomes unstable, eventually damaging the nucleus and

causing cells to die.

Based on what you learned in this Click & Learn, propose a genetic medicine strategy you could develop to

treat patients with progeria. Describe which step in gene expression you might target and why you would

target that step, the intervention tool you would use, and explain how this strategy would treat the disease.

Genetics Published January 2018 www.BioInteractive.org Page 4 of 4http://www.BioInteractive.org

  • OVERVIEW
  • PROCEDURE
  • APPLY WHAT YOU HAVE LEARNED
  1. Short Summary Write a onesentence summary of how this genetic medicine worksCRISPR Cas9:
  2. Detailed Description Describe how this genetic medicine would be used to treat a genetic disease For example mention how it would fix the diseasecausing mutation andor result in a functioning proteinCRISPR Cas9:
  3. Short Summary Write a onesentence summary of how this genetic medicine worksGene Therapy:
  4. Detailed Description Describe how this genetic medicine would be used to treat a genetic disease For example mention how it would fix the diseasecausing mutation andor result in a functioning proteinGene Therapy:
  5. Short Summary Write a onesentence summary of how this genetic medicine worksGene Switches:
  6. Detailed Description Describe how this genetic medicine would be used to treat a genetic disease For example mention how it would fix the diseasecausing mutation andor result in a functioning proteinGene Switches:
  7. Short Summary Write a onesentence summary of how this genetic medicine worksExon Skipping:
  8. Detailed Description Describe how this genetic medicine would be used to treat a genetic disease For example mention how it would fix the diseasecausing mutation andor result in a functioning proteinExon Skipping:
  9. Short Summary Write a onesentence summary of how this genetic medicine worksRNA Interference:
  10. Detailed Description Describe how this genetic medicine would be used to treat a genetic disease For example mention how it would fix the diseasecausing mutation andor result in a functioning proteinRNA Interference:
  11. Short Summary Write a onesentence summary of how this genetic medicine worksSmall Molecule Drug:
  12. Detailed Description Describe how this genetic medicine would be used to treat a genetic disease For example mention how it would fix the diseasecausing mutation andor result in a functioning proteinSmall Molecule Drug:
  13. What are the key characteristics of the disease and whom does it affect How can the featured genetic medicine be used to treat the diseaseLeber Congenital Amaurosis:
  14. What are the key characteristics of the disease and whom does it affect How can the featured genetic medicine be used to treat the diseaseSickle Cell Disease:
  15. What are the key characteristics of the disease and whom does it affect How can the featured genetic medicine be used to treat the diseaseDuchenne Muscular Dystrophy:
  16. What are the key characteristics of the disease and whom does it affect How can the featured genetic medicine be used to treat the diseaseHuntingtons Disease:
  17. What are the key characteristics of the disease and whom does it affect How can the featured genetic medicine be used to treat the diseaseCystic Fibrosis:
  18. question 1:
  19. Summary What happens during Protein Processing:
  20. What molecules and proteins are involved in Transcription:
  21. Summary What happens during Transcription:
  22. What molecules and proteins are involved in RNA Splicing:
  23. Summary What happens during RNA Splicing:
  24. What molecules and proteins are involved in mRNA Transport:
  25. Summary What happens during mRNA Transport:
  26. What molecules and proteins are involved in Translation:
  27. Summary What happens during Translation:
  28. What molecules and proteins are involved in Protein Processing:
  29. question 5:

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