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1. Mendelian or Multifactorial? Current Undergraduate Genetics Assessments Focus on Genes and Rarely Include the Environment

   https://doi.org/10.1128/jmbe.00093-22  

   Schmid, Kelly M.; Lee, Dennis; Weindling, Monica; Syed, Awais; Agyemang, Stephanie-Louise Yacoba; Donovan, Brian; Radick, Gregory; Smith, Michelle K. (December 2022, Journal of Microbiology & Biology Education)

   Wright, L. Kate (Ed.)

   ABSTRACT Undergraduate genetics courses have historically focused on simple genetic models, rather than taking a more multifactorial approach where students explore how traits are influenced by a combination of genes, the environment, and gene-by-environment interactions. While a focus on simple genetic models can provide straightforward examples to promote student learning, they do not match the current scientific understanding and can result in deterministic thinking among students. In addition, undergraduates are often interested in complex human traits that are influenced by the environment, and national curriculum standards include learning objectives that focus on multifactorial concepts. This research aims to discover to what extent multifactorial genetics is currently being assessed in undergraduate genetics courses. To address this, we analyzed over 1,000 assessment questions from a commonly used undergraduate genetics textbook; published concept assessments; and open-source, peer-reviewed curriculum materials. Our findings show that current genetics assessment questions overwhelmingly emphasize the impact of genes on phenotypes and that the effect of the environment is rarely addressed. These results indicate a need for the inclusion of more multifactorial genetics concepts, and we suggest ways to introduce them into undergraduate courses. 

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2. Genomics Literacy Matters: Supporting the Development of Genomics Literacy Through Genetics Education Could Reduce Cognitive Forms of Racial Prejudice

   Donovan, B.M.; Weindling, M.; Salazar, B.; Duncan, A.; Stuhlsatz, M.; Keck, P. (March 2021, Journal of research in science teaching)

   Some genetics educators have recently argued that improving students’ genomics literacy could prevent students from developing erroneous beliefs about social identity, such as the belief that racial groups differ cognitively and behaviorally because of their genes; a belief called genetic essentialism. To date, however, little research has explored if or how a conceptual understanding of genomics protects against the development of genetic essentialism. Using a randomized control trial (RCT) (N = 721, 9th-12th graders), we explore if students with more genomics literacy are more able to conceptually change their genetic essentialist beliefs after engaging in a learning experience designed to refute essentialist thinking. The results of the RCT demonstrated that students with higher genomics literacy (relative to those with lower genomics literacy) exhibited greater reductions in the perception of racial differences and greater reductions in belief in genetic essentialism after learning about patterns of human genetic variation. These results suggest that genetics education can protect students from developing a belief in genetic essentialism when it provides them with opportunities to learn multifactorial genetics and population thinking in conjunction with how these concepts refute essentialist thinking. 

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3. From Basic to Humane Genomics Literacy: How Different Types of Genetics Curricula Could Influence Anti-Essentialist Understandings of Race

   Donovan, B.M.; Weindling, M.; Lee, D. (March 2021, Science and Education)

   Genetic essentialism of race is the belief that racial groups have different underlying genetic essences which cause them to differ physically, cognitively, or behaviorally. Apparently no published studies have explored if belief in genetic essentialism of race among adolescents differs after many weeks of formal instruction about different domains of genetics knowledge. Nor have any studies explored if such differences reflect a coherent change in students’ racial schemas. We use a quasi-experimental design (N = 254 students in 7th-12th grade) to explore these gaps. Over the course of three months, we compared students who learned from a curriculum on multifactorial inheritance and genetic ancestry to students who learned from their business as usual (BAU) genetics curriculum that discussed Mendelian and molecular genetics without any reference to race, multifactorial genetics, or genetic ancestry. Relative to the BAU condition, classrooms that learned from the multifactorial genetics and ancestry curriculum grew significantly more in their knowledge of multifactorial genetics and decreased significantly more in their genetic essentialist perceptions, attributions, and beliefs. From a conceptual change perspective, these findings suggest that classrooms using a curriculum emphasizing genetic complexity are more likely to shift toward a coherent anti-essentialist understanding of racial difference. 

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4. A genetic screen of transcription factors in the Drosophila melanogaster abdomen identifies novel pigmentation genes

   https://doi.org/10.1093/g3journal/jkae097  

   Petrosky, Sarah J; Williams, Thomas M; Rebeiz, Mark (September 2024, G3: Genes, Genomes, Genetics)

   Macdonald, Stuart (Ed.)

   Abstract Gene regulatory networks specify the gene expression patterns needed for traits to develop. Differences in these networks can result in phenotypic differences between organisms. Although loss-of-function genetic screens can identify genes necessary for trait formation, gain-of-function screens can overcome genetic redundancy and identify loci whose expression is sufficient to alter trait formation. Here, we leveraged transgenic lines from the Transgenic RNAi Project at Harvard Medical school to perform both gain- and loss-of-function CRISPR/Cas9 screens for abdominal pigmentation phenotypes. We identified measurable effects on pigmentation patterns in the Drosophila melanogaster abdomen for 21 of 55 transcription factors in gain-of-function experiments and 7 of 16 tested by loss-of-function experiments. These included well-characterized pigmentation genes, such as bab1 and dsx, and transcription factors that had no known role in pigmentation, such as slp2. Finally, this screen was partially conducted by undergraduate students in a Genetics Laboratory course during the Spring semesters of 2021 and 2022. We found this screen to be a successful model for student engagement in research in an undergraduate laboratory course, that can be readily adapted to evaluate the effect of hundreds of genes on many different Drosophila traits, with minimal resources. 

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5. Molecular Genetics of Glaucoma: Subtype and Ethnicity Considerations

   https://doi.org/10.3390/genes12010055  

   Zukerman, Ryan; Harris, Alon; Verticchio Vercellin, Alice; Siesky, Brent; Pasquale, Louis R.; Ciulla, Thomas A. (January 2021, Genes)

   Glaucoma, the world’s leading cause of irreversible blindness, is a complex disease, with differential presentation as well as ethnic and geographic disparities. The multifactorial nature of glaucoma complicates the study of genetics and genetic involvement in the disease process. This review synthesizes the current literature on glaucoma and genetics, as stratified by glaucoma subtype and ethnicity. Primary open-angle glaucoma (POAG) is the most common cause of glaucoma worldwide, with the only treatable risk factor (RF) being the reduction of intraocular pressure (IOP). Genes associated with elevated IOP or POAG risk include: ABCA1, AFAP1, ARHGEF12, ATXN2, CAV1, CDKN2B-AS1, FOXC1, GAS7, GMDS, SIX1/SIX6, TMCO1, and TXNRD2. However, there are variations in RF and genetic factors based on ethnic and geographic differences; it is clear that unified molecular pathways accounting for POAG pathogenesis remain uncertain, although inflammation and senescence likely play an important role. There are similar ethnic and geographic complexities in primary angle closure glaucoma (PACG), but several genes have been associated with this disorder, including MMP9, HGF, HSP70, MFRP, and eNOS. In exfoliation glaucoma (XFG), genes implicated include LOXL1, CACNA1A, POMP, TMEM136, AGPAT1, RBMS3, and SEMA6A. Despite tremendous progress, major gaps remain in resolving the genetic architecture for the various glaucoma subtypes across ancestries. Large scale carefully designed studies are required to advance understanding of genetic loci as RF in glaucoma pathophysiology and to improve diagnosis and treatment options. 

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