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The Face of a Rare Genetic Disease

By Karobi Moitra

The Face of a Rare Genetic Disease


 

Abstract

This case study is designed to teach basic concepts of genetics by focusing on a rare disease, pseudoxanthoma elasticum (PXE).  Chromosome 16 is the narrator at the beginning of the case and introduces students to genes, chromosomes and mutations. The focus then shifts to the patient and his mother as she finds out about her son’s disease and her subsequent efforts to connect with patient advocacy groups for support. The case concludes with students watching a TED talk given by Sharon Terry, the real-life mother on whom this story is loosely based, so that students can connect on an emotional and human level with someone who has intimate experience as a parent of children with a rare genetic disease. The case is suitable for high school general biology classes, but it can also be used by biology major or non-major undergraduates in a lower-division biology class, or in any lower-division non-major class focused on human disease.

   

Date Posted

03/01/2021

Overview

Objectives

  • Explain the basic structure and function of chromosomes.
  • Explain the relationship between genes, chromosomes, nucleus and the cell.
  • Describe the genetic disease PXE.
  • Explain the basic concepts of genetics.
  • Understand mutations and their role in disease.
  • Learn how to locate information about a particular disease or gene.
  • Read and understand scientific articles and resources.
  • Understand patient advocacy.
  • Connect with the human face of genetic diseases.

Keywords

Genetics; pseudoxanthoma elasticum; PXE; Sharon Terry; disease; advocacy; genetics; chromosomes; genes; mutation

  

Subject Headings

Biology (General)

EDUCATIONAL LEVEL

High school, Undergraduate lower division

  

FORMAT

PDF

   

TOPICAL AREAS

Social issues

   

LANGUAGE

English

   

TYPE/METHODS

Flipped, Interrupted

 

 

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