Interactive Case Study for The Search for a Mutated Gene: Interactive Video Builder: HHMI BioInteractive

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This video describes the case of a patient with retinitis pigmentosa (RP), a progressive disease that leads to blindness, and how physician-scientist Dr. Ed Stone approached the search for the causal mutation.

Just before his sophomore year in college, Sam Walker was diagnosed with RP, which can be caused by mutations in one of over 100 known genes. Dr. Ed Stone set out to identify the specific mutation affecting Sam, with the hope of devising a treatment for him. The process involved 1) testing Sam’s DNA for mutations known to be associated with RP in other patients, 2) analyzing the sequences of genes not previously associated with RP to search for novel causative mutations in Sam, 3) finding additional RP patients with the same mutation as Sam, and 4) determining the effect of Sam’s mutation in a model organism. Having identified the likely root of Sam’s RP, Dr. Stone can now devise a gene therapy to stop disease progression.

An audio descriptive version of the film is available via our media player.

Please note that embedded interactions will not appear in the descriptive audio version.

Topics:: Genetic Disease

Genomics

Biotechnology
Grade Levels:: College

High School — AP/IB

High School — General

You will watch a short video that presents the approaches scientists used to identify a mutation that causes retinitis pigmentosa (RP) in a patient. At various points, the video will pause and you will be asked to think about the research. You will not be able to continue to watch the video, until you have answered and saved your response to the prompt.

As you answer the prompts, keep in mind that some questions do not have a "right answer." You will have the opportunity to revisit your responses at the end of the video.