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Sickle Cell Disease Case Study

Author(s): Elizabeth Co

Boston University

565 total view(s), 359 download(s)

Summary:

A short film explores the evolutionary connection between an infectious disease, malaria, and a genetic condition, sickle cell anemia. The animation explores the genetic causes and biological effects of sickle cell disease.

Licensed under CC Attribution-NonCommercial-NoDerivatives 4.0 International according to these terms

Version 1.0 - published on 06 May 2020 doi:10.25334/G6MX-3Q88 - cite this

Adapted from: Sickle Cell Disease and Natural Selection in Humans v 2.0

Description

Short film: Tony Allison first noticed a connection between malaria and the sickle cell trait while working in East Africa in the 1950s. The story of his discovery stands as one of the best understood examples of natural selection in humans in which the selective agent, adaptive mutation, and molecule involved are all known. The protection against malaria provided by the sickle cell mutation demonstrates how evolution does not necessarily result in optimal solutions for the species but proceeds in response to selective pressures by utilizing what variation is available.

The “Abbreviated Film Guide” provides a short summary of the film, along with key concepts and connections to curriculum standards.

Animation: Sickle cell disease (also known as sickle cell anemia) is caused by a mutation in the protein hemoglobin. The animation illustrates how the mutated hemoglobin proteins can change the shape of red blood cells and ultimately reduce blood flow through the body. The animation also explores the mutation behind the disease: a single nucleotide change causing an amino acid substitution that can make hemoglobin molecules stick together.

Case Study: Students work through the biological and physiological repercussions of Sickle Cell Disease, as well as the Biology behind novel therapeutic approaches.

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