Cystic Fibrosis

By Kathleen A. Nolan, Allen J. Burdowski

Abstract

This PowerPoint-driven, flipped case study begins with a short video about a woman suffering from cystic fibrosis (CF) in the 1970s, a friend of the lead author's, whom she met in college and who died in her twenties. Hooked by this personal story, students then delve into the genetics and biology of cystic fibrosis as they learn about the difference between dominant and recessive genes, make Punnett squares that depict various types of inheritance, distinguish between probability and actual numbers, differentiate types of mutations, and learn about the opportunistic infections that CF patients often succumb to. Students conclude the case by watching two additional videos on chest compression machines and the contemporary life expectancy of patients with CF. In addition to the scientific content presented in the case, it is hoped that students will empathize with, and be motivated by, the young people presented in the videos as they struggle with a very real, incurable disease deeply rooted in genetics.

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Date Posted

11/15/2017

Overview

Objectives

Distinguish genotype from phenotype of a recessive trait.
Distinguish between the different patterns of inheritance of simple (monogenic) traits.
Construct Punnett squares to determine the probability of phenotypes for each pattern of inheritance.
Outline the procedure for analyzing chromosomes.
Describe the relationship between DNA triplet codons and amino acids.
Construct and calculate various probabilities of inheriting autosomal recessive and dominant, and sex-linked recessive and dominant traits.
Understand the difference between actually getting a disease and the chances for getting a disease.
Understand the biology of CF, such as its location (locus) on which chromosome, the role of the normally-functioning cystic fibrosis transmembrane conductance or CFTR protein in the cell, and how its defects (caused by the gene's mutations) contribute to CF.
Know the symptoms of CF and the organ systems it affects.
Understand that people can die of opportunistic infections related to a defective gene.
Know what life expectancy is and how it can change.

Keywords

cystic fibrosis; cf; genetics; Punnett square; opportunistic infections; life expectancy;

Subject Headings

Biology (General)

Cell Biology

Genetics / Heredity

EDUCATIONAL LEVEL

Undergraduate lower division, Undergraduate upper division

FORMAT

PDF, PowerPoint

TOPICAL AREAS

N/A

LANGUAGE

English

TYPE/METHODS

Directed, Discussion, Flipped

Teaching Notes & Answer Key

Teaching Notes

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Answer Key

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Materials & Media

Supplemental Materials

Videos

Cystic Fibrosis: Then and Now
This video opens with the personal story of a woman suffering from cystic fibrosis (CF) in the 1970s, a friend of the lead author’s, whom she met in college. The video then relates selected facts and statistics about CF, and ends with a description of current treatments that have helped to extend the life expectancy of those with CF. Running time: 4: 54 min. Created by Kathleen Nolan for the National Center for Case Study Teaching in Science, 2016.
Living with Cystic Fibrosis
This video explains a day in the life of a teenager with cystic fibrosis. The video focuses on the daily regimen of treatments that Holly Rosanna, who is eighteen years old and has the disease, follows, including the use of a mechanized compression vest to break up the mucous in her lungs. Running time: 13:57 min. Created by Holly Rosanna, 2011.
My Life Expectancy
In this video, nineteen-year-old Claire Wineland talks about her life expectancy and the emotional issues of living with CF. Running time: 5:03 min. Created by The Clarity Project, 2015.