Skip to main content
Toggle User Menu

HHMI BioInteractive

  • Español
  • Search
  • Log In/Create Account
  • Classroom Resources
  • Planning Tools
  • Professional Development
  • About Us

Interactive Case Study for The Search for a Mutated Gene

Launch Interactive
Illustration of chromosomes with bands representing genes
Topic
  • Biochemistry & Molecular Biology
  • Biotechnology
  • Genetics
  • Genetic Disease
  • Science Practices
  • Experimental Design
Resource Type
  • Interactive Media
  • Interactive Videos
Level
High School — AP/IBCollege
Favorited By
26 Users
Share This
Description

This video case study explores the approaches scientists used to identify a mutation that causes retinitis pigmentosa (RP), a progressive disease that leads to blindness.

RP results in the deterioration of the retina and loss of vision. Some cases of RP are inherited and caused by mutations in one of several different genes. Many mutations that cause RP have been identified. But when scientists tested the DNA of the patient featured in this video, Sam, they did not find any of these known mutations. The video follows physician-scientist Edward Stone as he tried to uncover the mutation that causes Sam’s RP.

This video incorporates embedded questions at automatic pause points, where students are asked to make predictions, construct explanations, and analyze data. After answering all the questions, students can view their answers in a “Report” that can be printed. They can also add further explanation to each answer in the Report if their thinking has changed. The video can also be shown without embedded questions using "Presentation Mode." 

Student Learning Targets
  • Formulate a hypothesis to explain how a mutation in a gene would affect the function of a cell and an organism.
  • Describe the possible steps involved in identifying a disease-causing gene mutation in a patient.
  • Predict how replacing a mutated gene with a functioning copy of that gene will affect the phenotype of a cell and/or organism.
  • Explain how the identification of disease-causing mutations can be used to develop medical treatments.
     
Details
Estimated Time
Within one 50-minute class period.
Key Terms

genetic disease, genomics, model organism, mutation, retinitis pigmentosa (RP), tRNA

Primary Literature

DeLuca, Adam P., S. Scott Whitmore, Jenna Barnes, Tasneem P. Sharma, Trudi A. Westfall, C. Anthony Scott, Matthew C. Weed, et al. “Hypomorphic mutations in TRNT1 cause retinitis pigmentosa with erythrocytic microcytosis.” Human Molecular Genetics 25, 1 (2016): 44–56. https://doi.org/10.1093/hmg/ddv446.

Terms of Use

Please see the Terms of Use for information on how this resource can be used.

Accessibility Level

This resource and the accompanying documents comply with accessibility standards in accordance with the final rule for Section 508 of the National Rehabilitation Act.
Version History
Date Published 02.24.20
Curriculum Connections
NGSS (2013)

HS-LS1-1, HS-LS3-1, HS-LS3-3; SEP6

AP Biology (2019)

IST-1.K, IST-1.P, IST-2.E, IST-4.A; SP1, SP3

IB Biology (2016)

3.4, 3.5

Vision and Change (2009)

CC3; DP1, DP6

Materials
Embedded Questions (PDF) 233 KB

Explore Related Content

Other Related Resources
Showing of
Photo of a butterfly wing
Lessons
Winging It: Analyzing a Scientific Paper
Scientists at Work
Niche Partitioning and Species Coexistence
Clips
Learning from Mice: The Science of Transgenic Technology
Screenshot of a portion of a genealogy diagram
Lessons
Inheritance and Mutations in a Single-Gene Disorder
Short Films
Genes as Medicine
Scientists at Work
The Search for a Mutated Gene
Film Activities
Activity for Genes as Medicine
Virtual Labs
Cardiology Virtual Lab
Click & Learn
Central Dogma and Genetic Medicine
Click & Learn
CRISPR-Cas9 Mechanism & Applications

HHMI BioInteractive

  • Facebook
  • Instagram
  • Twitter
  • YouTube
  • Newsletter Signup
  • HHMI.org
  • Terms of Use
  • Privacy Policy