This case study focuses on a specific enzyme Lactate Dehydrogenase (LDH) in the malarial parasite as a target for treating malaria.

Students require a deep understanding of the central dogma before they can understand complex topics such as evolution and biochemical disorders. However, getting undergraduate biology students to apply higher-order thinking skills to the central dogma is a challenge. Students remember and regurgitate the molecular details of transcription and translation but if asked to apply these details, such as how a DNA mutation might affect phenotype, it becomes clear that most students do not deeply understand the central dogma. This lesson is a five-week series of laboratory activities designed to help students transition from applying lower order thinking skills to the central dogma to applying higher-order thinking skills. Over five weeks, students explore the phenotype of Arabidopsis asymmetric leaves 1 (as1) and as2 mutants. Students isolate DNA from wild-type and mutant plants and determine the sequence of the AS1 and AS2 alleles. Students use the DNA sequence data to determine the mutant protein amino acid sequences. They submit the mutant and wild-type protein sequences to a free online server and obtain three-dimensional (3-D) models of the wild-type and mutant proteins. They use free software to analyze and compare the 3-D models to determine the structural differences between the wild-type and mutant proteins. These computer-generated models can be 3-D printed allowing students to better visualize the protein structure. The overall goal is to use student-centered laboratory activities to demonstrate the relationship between DNA sequence, protein structure/function, and phenotype.

This lesson introduces the University of California Santa Cruz genome browser to students, walking them through some of the key features so that it can be used for analysis of gene structure.

This module explores how multiple different mRNAs and polypeptides can be encoded by the same gene. After completing this module students will be able to explain how alternative splicing of a gene can lead to different mRNAs.

A compelling reason to learn something can make all the difference in students’ motivation to learn it.  Motivation, in turn, is one of the key attitudes that drives learning.  This story presents students with a compelling puzzle of a fatherless snake.  The puzzle motivates students to learn about meiosis and mitosis, since the only way to explain the origin of the fatherless baby is by mastering details of meiosis.  During the process, students work through the major steps in meiosis, compare and contrast mitosis and meiosis, and apply their understanding to predict how meiosis “went wrong” to produce an unusual offspring that did not originate through union of an egg and a sperm.  This story can be adapted for introductory or advanced students and can be scaled from a brief introduction in a single lecture to a series of active learning exercises that could take two or more lecture periods.

There is an abundance (currently over 10¹⁶ DNA bases) of publicly available genetic sequence data and a dearth of trained genomicists to process and interpret it, necessitating more trained bioinformaticians with biological expertise. For example, thousands of data sets are deposited on NCBI's Sequence Read Archive with plans to use only part of the data generated, though much of this data could be used to address other important biological questions. Course-Based Undergraduate Research Experiences (CUREs) are growing in popularity as a way to engage undergraduates in a project-based learning experience to analyze data that could not otherwise be processed. Through CUREs, students can receive training in the most relevant and up-to-date skill sets used within the field. We present a lesson plan for a CURE centered around teaching genome annotation. This project is suitable as a four week module in an undergraduate/graduate cross-listed course and focuses on annotating streamlined organellar genomes. This module is similar to other programs, such as the Genomics Education Partnership. However, students are additionally provided with the opportunity to publish their annotated genomes to NCBI's GenBank. In addition, many students who have taken this course have gone on to pursue internships and careers using the bioinformatics skills gained.

s assistant professor in the department of medicine at Rutgers Robert Wood Johnson Medical School, Manisha Bajpai, PhD., led the Gastroenterology division’s clinical and translational research efforts funded by the NIH/NIDDK and grants from industry foundations. Her research initiative focused on early-stage biomarker discovery in Barrett’s esophagus and Inflammatory Bowel Diseases using various contemporary molecular biology, cell biology as well as Omics methods. In this lecture we will develop a basic understanding of the methods of the various ‘omics” approaches and discuss their potential in improving human health.

Two articles introducing the Human Genome Project-Write and asking questions about the ethics of the project.

A video that highlights the unspoken assumptions that we use in pedigree analysis.

Gene structure, transcription, translation, and alternative splicing are challenging concepts for many undergraduates studying biology. These topics are typically covered in a traditional lecture environment, but students often fail to master and retain these concepts. To address this problem we have designed a series of six Modules that employ an active learning approach using a bioinformatics tool, the genome browser, to help students understand eukaryotic gene structure and functionality. Students learn how to use a mirror site of the UCSC Genome Browser created by the Genomics Education Partnership while completing the Modules, which focus on gene structure, transcription, splicing, translation, and alternative splicing. The Modules are supplemented with short videos that illustrate key functionalities of the genome browser and fundamental concepts in processing transcripts. These materials have been used successfully to teach gene structure in many different settings, from community colleges to 4-year colleges and universities, encompassing advanced high school students to college seniors. Instructors can easily customize the Modules and/or select a subset for their curriculum. The Modules have helped our students learn about eukaryotic gene structure and expression, simultaneously acquiring skills in the use of a genome browser, and have prepared them to pursue genome annotation projects as independent research.

At the heart of scientific ways of knowing is the systematic collection and analysis of data, which is then used to propose an explanation of how the world works. In this two-day module, students in a large-lecture course are immersed in a biological problem related to the Central Dogma and gene expression. Specifically, students interpret experimental data in small groups, and then use those data to craft a scientific argument to explain how alternative splicing of a transcription factor gene may contribute to human cancer. Prior to the module, students are assigned a reading and provided PowerPoint slides outlining the basics of alternative splicing and refreshing their understanding of gene regulation. Students complete a pre-class assignment designed to reinforce basic terminology and prepare them for interpreting scientific models. Each day of the module, students are presented experimental data or biological models which they interpret in small groups, use to vote for viable hypotheses using clickers, and ultimately leverage in a culminating summary writing task requiring them to craft a data-driven answer to the biological problem. Despite the novelty of the argumentation module, students engage in all aspects (inside and outside of the classroom) of the activity and are connected across data, hypotheses, and course concepts to explain the role of alternative splicing in gene expression and cancer.

Primary image: Splicing it together. Students work together, interpreting primary data and models to investigate the effects alternative splicing may have on gene regulation and cancer.

At the heart of scientific ways of knowing is the systematic collection and analysis of data, which is then used to propose an explanation of how the world works. In this two-day module, students in a large-lecture course are immersed in a biological problem related to the Central Dogma and gene expression. Specifically, students interpret experimental data in small groups, and then use those data to craft a scientific argument to explain how alternative splicing of a transcription factor gene may contribute to human cancer. Prior to the module, students are assigned a reading and provided PowerPoint slides outlining the basics of alternative splicing and refreshing their understanding of gene regulation. Students complete a pre-class assignment designed to reinforce basic terminology and prepare them for interpreting scientific models. Each day of the module, students are presented experimental data or biological models which they interpret in small groups, use to vote for viable hypotheses using clickers, and ultimately leverage in a culminating summary writing task requiring them to craft a data-driven answer to the biological problem. Despite the novelty of the argumentation module, students engage in all aspects (inside and outside of the classroom) of the activity and are connected across data, hypotheses, and course concepts to explain the role of alternative splicing in gene expression and cancer.

Primary image: Splicing it together. Students work together, interpreting primary data and models to investigate the effects alternative splicing may have on gene regulation and cancer.

Understanding the central dogma and how changes in gene expression can impact cell function requires integration of several topics in molecular biology. Students often do not make the necessary connections between DNA structure, transcription, translation and how these processes work together to impact cell function. This lesson seeks to tie together these concepts through the use of data from primary literature, in the context of viral infection. This lesson asks students to think like scientists as they design experiments, make predictions and interpret and evaluate data from primary literature on how changes in the expression of a glucose transporter gene can alter the function of a cell through changes to glucose uptake and metabolism. This lesson incorporates the Vision and Change core concept of information flow and the core competency of quantitative reasoning. It also addresses The Genetics Society of America learning framework goal of Gene Expression and Regulation (How can gene activity be altered in the absence of DNA changes?). This lesson was taught in three sections of a small-enrollment undergraduate class and assessed summatively using a pre/post test and formatively using in class via personal response systems. This lesson describes the design, implementation and results of student assessment, and offers suggestions on how to adapt the materials to a variety of contexts including different class sizes, different units of introductory biology, and upper-level classes.

An online module utilizing probability and Punnett squares to introduce students to more complex genetic problems. The module emphasizes students' use of probability to solve the problems.

A strong understanding of distinct gene components and the ability to retrieve relevant information from gene databases are necessary to answer a diverse set of biological questions. However, often there is a considerable gap between students’ theoretical understanding of gene structure and applying that knowledge to design laboratory experiments. In order to bridge that gap, our lesson focuses on how to take advantage of readily available gene databases, after providing students with a strong foundation in the central dogma and gene structure. Our instructor-led group activity aids students in navigating the gene databases on their own, which enables them to design experiments and predict their outcomes. While our class focuses on cardiomyocyte differentiation, classes with a different focus can easily adapt our lesson, which can be conducted within a single class period. Our lesson elicits high engagement and learning outcomes from students, who gain a deeper understanding of the central dogma and apply that knowledge to studying gene functions.

Primary Image: Gene structure at various levels of expression and retrieval of corresponding biological information from gene databases. This image contains a screenshot from the NCBI Database, which is an open source: National Center for Biotechnology Information. 2021. SOX2 SRY-box transcription factor 2.

Mutations in genes can affect the encoded proteins in multiple ways, and some of these effects are counterintuitive. As for any other knowledge, students must create their own deep understanding of the Central Dogma. Students may not develop this understanding because they have limited opportunity to practice manipulating DNA sequences and classifying their effects. Such practice can improve student appreciation for the myriad possible effects of DNA change (mutation) on amino acid sequence. In this Lesson, a series of scaffolded exercises provides this opportunity. Students first identify gene sequences from an online database, create their own insertion/deletion mutations, and predict the effects. Students then use a web-based tool to translate and observe the effect of the mutation on protein sequence. Subsequent comparison of predicted and observed effects employs the chi-square test. Discussion of results with peers involves categorizing the types of possible effects. The lesson concludes with an exercise asking students to create a mutation with an intended effect on the protein. Together, the exercises integrate quantitative reasoning and statistical analysis, information literacy, and multiple Bloom's learning levels. Student progress is monitored using three formative and three summative assessments.

This is an online activity that provides an introduction to Punnett squares as a tool for visualizing genetic inheritance. The ratios of possible genotypes and phenotypes in offspring are considered. Both monohybrid and dihybrid crosses are examined.

This glossary defines the key terms that are used in the Understanding Eukaryotic Genes modules.

This is an introductory bioinformatics exercise intended for use in a genetics course.

Constructing a robust understanding of homologous chromosomes, sex chromosomes, and the particulate nature of genes is a notoriously difficult task for undergraduate biology students. In this lesson, students expand their knowledge of human chromosome pairs by closely examining autosomes, sex chromosomes, and the non-homologous elements of the human X and Y sex chromosomes. In this four- part guided activity, students will learn about the structure and function of human autosomal and sex chromosomes, view and interpret gene maps, and gain familiarity with basic bioinformatics resources and data through use of the National Center for Biotechnology Information (NCBI) website. (Student access to computers with Internet connectivity is required for the completion of all Investigations within this lesson.) By viewing chromosomes and gene maps, students will be able to contrast expectations for homologous autosomal chromosome pairs and sex chromosome pairs, as well as gain a deeper understanding of the genetic basis for human chromosomal sex determination. In the last part of this lesson, students can also begin to understand how genetic mutations can lead to sex-reversal. The lesson, as presented, is intended for an introductory biology course for majors, but could be modified for other audiences. In addition, each exercise (“Investigation”) within the lesson can be used independently of the others if an instructor wishes to focus on only a subset of the learning objectives and provide the necessary context.  Options to extend the lesson related to interpreting phylogenies, and contrasting definitions of sex and gender are also provided.

A lesson that requires students to work through a series of questions pertaining to the genetics of sickle cell disease and its relationship to malaria.

Genetics is a fascinating topic of biology. Establishing relevance is a key component of student learning. To increase learning, this resource includes summaries and teaching guides for integrating four different podcasts into a genetics course. Lecturing through podcasts has been shown to be received well by students and improve their understanding of concepts. Using podcasts to provide context and significance to a course would further enhance their learning and interest in the course.

This case aims to strengthen students’ understanding of molecular biology concepts through study of Fragile X Syndrome (FXS). Students begin by learning the cause and phenotypes of FXS and related conditions. Students then apply genetics knowledge to describe the inheritance of FXS. Knowledge of the central dogma of molecular biology helps students understand the impact of genetic and epigenetic changes on expression of the Fragile X mental retardation gene 1 and the impacts of the loss of the Fragile X Mental Retardation Protein on other protein production. As one example of the latter, students look at alterations in metabolic enzymes and consider ways to mitigate the phenotype, proposing treatments for FXS. Throughout the case, students are pointed to a clinical website and scientific literature to build their understanding. This case study also engages students in consideration of diversity and inclusion in conveying, interpreting, and acting on scientific information. Overall, this case can help students connect biological concepts to a real-world application while developing their abilities to think critically and comprehend scientific information.

Primary Image: “Fragile X metaphase spread,” showing human chromosomes with the Fragile X site highlighted with an arrow. This image was accessed via Creative Commons and available under license CC BY 4.0 (provider Europeana, source Wellcome Collection).

Students often shy away from tedious bioinformatics approaches to exploring their genomes. However, in our expanding digital world these skills are some of the most relevant and valuable. To increase students' interest in their own genomes, I have designed a computer-based laboratory lesson that was coupled with opportunity for the students to be genotyped by the consumer sequencing company, 23andMe. This lesson employs multiple open-access websites through which students explore a health-related single nucleotide polymorphism (SNP) in which they are most interested. Through a series of guided activities, students investigate the genomic region in which their SNP lies, investigate if there are any genome-wide association studies about this SNP, and then determine what model organism would be the best to use if they were to conduct future research about the gene in which the SNP lies. This module could be adapted as a supplement for a variety of Biology lecture or laboratory courses including but not limited to genetics and molecular biology.

In this essay, we present our strategy for implementing active learning strategies into an upper division course on Human Genetics. Our principal goal was to shift from a traditional didactic course design, to one that more clearly placed the responsibility for learning on to the course participants. A key part of our objective, was to incorporate active learning approaches that more saliently lend themselves to student contemplation of material. We pursued the goal of incorporating active learning in a variety of ways, including the use of personal response clicker questions, partner discussions, small group discussions, class-wide presentation of topical questions, and a final comprehensive individual presentation. The approaches we describe were effective and favorably received, as reflected in positive post-course reviews from student participants. The tools and techniques we integrated in our course design are flexible, and are widely applicable to other subjects and disciplines. Our hope is that these approaches may be flexibly adapted for a variety of different courses to improve course experiences for students and instructors alike.