A Child with Huntington Disease
Department of Biology
Department of Biology
Department of Biological Sciences
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.
- 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.
KeywordsHuntington disease; juvenile-onset Huntington; HTT; trinucleotide repeat; RNAi; DNA replication; CAG repeat; genetic mutation; germline cells; RNA interference; neurological disease; htt protein; HTT gene;
Educational LevelUndergraduate lower division, Undergraduate upper division, Graduate, Professional (degree program), Continuing education
Type / MethodsDirected, Flipped, Interrupted
Subject HeadingsBiology (General) | Biotechnology | Cell Biology | Genetics / Heredity | Medicine (General) | Molecular Biology | Neuroscience | Physiology |
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The following video(s) are recommended for use in association with this case study.
- Auggie’s Story
This mini-documentary, produced specifically for this case study, provides the human interest “hook” and is used in Part III of the case study. It tells the story of the only (as of time of posting) afro-hispanic globally to be diagnosed with juvenile Huntington disease (JHD). Running time: 5:14 min. Produced by Laura Y. Lorentzen, Kristie Reilly, Connor Baucom, and Elizabeth A. Manheim, 2019.
- DNA Replication Advanced Detail
This video is assigned viewing for Part I of the case study to review DNA replication. Running time: 2:19 min. Produced by HHMI Biointeractive, 2020.
- Trinucleotide Repeat
This video is assigned viewing for Part I of case study to explain trinucleotide DNA repeat sequences. Running time: 1:08 min. Produced by HHMI Biointeractive, 2003.
- The Most Beautiful Experiment in Biology: Meselson & Stahl, the Semi-Conservative Replication of DNA
This video reviews the discovery of the semiconservative model of DNA replication and provides an example of valid hypothesis testing. It can be used to further supplement the material in Part I of the case study. Running time: 7:33 min. Produced by YourEkaScience, 2014.
- DNA Replication (Updated)
This video provides additional review of DNA replication listing the name and function of enzymes involved, lagging versus leading strands, antiparallel nature of the DNA helix. Running time: 8:11 min. Produced by Amoeba Sisters, 2019.
- DNA Replication Animation Super Easy
This video provides another brief review of DNA replication. Running time: 3:11 min. Produced by Daily Med Ed, 2013.