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Auggie’s Story

A Child with Huntington Disease

By Laura Y. Lorentzen, Kristie Reilly, Connor Baucom, Elizabeth A. Manheim

Auggie’s Story


 

Abstract

This case study, designed for the “flipped” classroom, is divided into four parts that explore the etiology of Huntington disease. Students complete the first two sections before coming to class by watching videos and an interactive module from HHMI BioInteractive and answering a set of questions that require them to integrate prior knowledge of DNA replication with the more advanced genetics topics of trinucleotide repeat errors during DNA synthesis, which can lead to neurological and genetic disorders, in particular Huntington disease. In-class work begins with Part III, which features an inspiring mini-documentary produced by the authors about Auggie, an Afro-Hispanic boy diagnosed with juvenile Huntington disease (JHD). Part IV concludes the case with a look at novel therapeutic strategies using RNA interference. The case is suitable for use by undergraduate students enrolled in genetics, cell physiology, neuroscience or related courses.

   

Date Posted

02/08/2021

Overview

Objectives

  • Combine prior knowledge of cell division and the central dogma of molecular biology to genetic mutations and disease, in particular DNA replication and trinucleotide repeats.
  • Formulate new knowledge of neurological disorders, specifically Huntington disease.
  • Test newly acquired knowledge in practice in the context of a patient case study of juvenile-onset Huntington disease.
  • Examine how novel therapeutic strategies such as RNA interference are under investigation to treat genetic disease.

Keywords

Huntington disease; juvenile-onset Huntington; HTT; trinucleotide repeat; RNAi; DNA replication; CAG repeat; genetic mutation; germline cells; RNA interference; neurological disease; htt protein; HTT gene;

  

Subject Headings

Biology (General)
Biotechnology
Cell Biology
Genetics / Heredity
Medicine (General)
Molecular Biology
Neuroscience
Physiology

EDUCATIONAL LEVEL

Undergraduate lower division, Undergraduate upper division, Graduate, Professional (degree program), Continuing education

  

FORMAT

PDF

   

TOPICAL AREAS

N/A

   

LANGUAGE

English

   

TYPE/METHODS

Directed, Flipped, Interrupted

 

 

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