When well-meaning simplifications are potentially harmful: Lessons from pedigree analysis in biology.

When teaching at the introductory level, we often present concepts and processes in a simplified way to facilitate learning, as our learners may not yet have the sufficient background to grasp all the complexities of the process. While this certainly has pedagogical value, simplifications carry the risk of giving students an inaccurate picture of the concept in question. In our context (genetics), the potential risks associated with simplification are even greater: presenting genetics in the traditional, simplified, Mendelian manner can reinforce genetic essentialist belief, which has been demonstrated to play a role in prejudice and discrimination (Donovan and Nehm, 2020 and references therein). In contrast, honoring the multifactorial, complex, real-life nature of phenotypic variation can move students away from this inaccurate and potentially harmful perception (Jamieson and Radick, 2017; Donovan et al., 2021). To address whether these findings are applicable to students learning genetics at our institution, we administered a pre/post survey addressing genetic essentialism and elements of genetics knowledge, to over 1,000 participants in biology courses where genetics was taught in different ways*. We will use the results of this work as a starting point to invite a conversation on benefits, drawbacks, barriers and potential strategies to honour the complexities of concepts that participants teach in their own contexts. Although simplifications may be essential in the pursuit of scientific knowledge, nature itself is nuanced – (how) can we convey this at an introductory level? *This research was approved by our institutions\u27s board of ethics (#H21-02538) References cited: Donovan, B. & Nehm, R.H. (2020). Genetics and Identity. Science & Education, 29: 1451–1458. https://doi.org/10.1007/s11191-020-00180-0 Donovan, B.M., Weindling, M., Salazar, B., Duncan, A., Stuhlsatz, M., & Keck, P. (2021). Genomics literacy matters: Supporting the development of genomics literacy through genetics education could reduce the prevalence of genetic essentialism. Journal of Research in Science Teaching, 58(4):520-550. https://doi.org/ 10.1002/tea.21670. Jamieson, A. & Radick, G. (2017). Genetic determinism in the genetics curriculum: An exploratory study of the effects of Mendelian and Weldonian emphases. Science & Education, 1:577-595. https://doi.org/10.1007/s11191-017-9900-

For genes that encode one component of a multimeric protein complex, measuring only one phenotype often gives a biased view of function: SU(VAR)3-9 and chromatin architecture as an example

Eukaryotic genomes are organized into chromatin, a highly dynamic complex of DNA and proteins, which plays a critical role in the regulation of gene expression. This thesis focuses on the study of a non-histone chromatin protein, the SET domain-containing H3K9 methyltransferase (HMTase) SU(VAR)3-9, and its role in the packaging and regulation of a euchromatic locus, the histone genes cluster (HIS-C). SU(VAR)3-9 was discovered in Drosophila melanogaster, but it is highly conserved from yeast to mammals. It has two conserved domains, the chromo- and the SET domains, and both are required for its function in gene silencing. The SET domain is responsible for the catalytic activity of SU(VAR)3-9, while the exact function of the chromo domain is still unclear. To gain an insight on the role(s) of SU(VAR)3-9 in the regulation of gene silencing, we first characterized a collection of Su(var)3-9 EMS-induced mutants that had been isolated in a genetic screen for strong, dominant suppressors of position-effect variegation (PEV). These mutants were characterized at the molecular, enzymatic, and cellular level, and their effect on gene silencing was also examined. We found that all mutants have single amino acid substitutions in the conserved preSET/SET/postSET domain, and that they all display a dramatic or complete loss of HMTase activity, strongly suggesting that suppression of PEV is linked to SU(VAR)3-9’s ability to methylate H3K9. The HIS-C is a natural, euchromatic target of SU(VAR)3-9, and mutations in Su(var)3-9 can alter its chromatin structure (Ner et al., 2002). To investigate the exact role(s) of SU(VAR)3-9 in the regulation of this locus, we analyzed the effects of a series of Su(var)3-9 missense mutants on the chromatin architecture of the HIS-C and on the expression of the histone genes. We detected a drastic reduction in the levels of H3K9me2 and HP1 associated with the his genes in all Su(var)3-9 missense mutants, although the mutant SU(VAR)3-9s still associate with the HIS-C. In addition, these mutants have elevated amounts of histone H2A and histone H3 RNA, suggesting that the enzyme function of SU(VAR)3-9 is critical for the regulation of the histone genes.Medicine, Faculty ofMedical Genetics, Department ofGraduat

Comparing post-course retention of conceptual and procedural knowledge in genetics

A strong indicator of learning is the retention of knowledge after a course is complete. Here we report differences in retention of conceptual versus procedural knowledge after students completed a second year Fundamentals of Genetics course at the University of British Columbia. Students who took the course showed significant retention of conceptual knowledge approximately two and a half months after course completion. However, their ability to solve problems using their conceptual understanding was significantly diminished. With information about retention we can make informed decisions about how much time to devote to teaching various concepts and procedural skills. As well, conceptual knowledge and skills that are valued in biology should likely be taught multiple times over the course of a degree to ensure sufficient long term retention of such knowledge

Assessing student learning following course revision

At UBC, our first-year inquiry-based biology lab ‘Investigations in the Life Sciences’ has been undergoing renewal. As part of this process, the course has become more focused on experimental design, data interpretation and scientific writing. We have designed new resources to support the large numbers of students in this course (n=1500) as they develop, implement and report on their research question. To assess the impact of these changes on students, we employed student surveys and focus groups. In addition to this, we used concept questions to monitor student learning both pre- and post-renewal, and to identify concepts that students have difficulty with. Here we share the findings from our renewal monitoring thus far. As part of this renewal process, we have reflected on which concepts and elements of basic experimental design and analysis are critical for students to experience in a first year lab course. We will seek input from audience members regarding their experience and opinions on this matter. Participants in this session will be able to critically discuss and prioritize learning outcomes for a first-year inquiry-based lab course. They will also be able to propose means of assessing student learning, following course renewal, and contribute to a discussion on interpretation of assessment data

The impetus for course renewal – responding to student feedback

As science educators, we are often reminded of the importance of being reflective practitioners, and the importance of seeking and responding to feedback from students. With this in mind, we embarked on the renewal of a long-established first year biology lab course in response to negative feedback from students via standard end-of-term surveys. We first surveyed past students more extensively about their experience in the course, their suggestions for improvement, and what elements of the course they found useful. We then incorporated student feedback into the renewal where their suggestions were appropriate and commensurate with our intentions. Three major areas emerged for consideration: the high workload for a 2-credit course, the clarity of assessment expectations, and the authenticity of the research experience. As part of the renewal we refined workload requirements by removing activities that did not directly support our objectives. We clarified assessment requirements and also introduced grading rubrics. Finally, through various activities, we increased the visibility of the parallels between student research and real research taking place at the university. We additionally provided more scaffolding in areas students requested and found beneficial, and monitored student learning to ensure this was not adversely affected as a result of the renewal. Post-renewal feedback from students regarding their experience with the course is greatly improved. Through the example of our renewal process, poster attendees will (1) learn the value of a mixed-method assessment strategy in evaluating curriculum change and (2) gain an appreciation of the importance of considering student feedback when engaging in course renewal

Sprinkling real life onto pedigrees: Helping students develop a more accurate view of genetics.

Human pedigree analysis exercises are staples of introductory genetics education, are well—received by students, and bring opportunities to practice their analytical skills (Timm et al., 2022). However, their dichotomous depiction of individuals fails to acknowledge that, in real life, practically all genetic conditions present a range of severity and diversity, both among the “affected” and the “unaffected” individuals. Besides the factual discrepancies between how genetic conditions are illustrated in pedigrees and what is known about them, using these simplified and reductionist representations might be reinforcing an inaccurately deterministic view of genetics (Jamieson and Radick, 2017). To counteract this problem, we developed and piloted a realistic pedigree case study where students contend with many elements that are usually hidden and not mentioned in teaching materials. Presented with a family tree and the blood test results of a set of family members, students need to first decide on the criteria and processes to assess who is to be considered “affected”. They do this with the help of original data from the literature provided to them, and information that they can search online. As they analyze their pedigree, students are exposed to the real life ambiguities of inheritance models, have to consider confounding factors, and need to integrate different types of evidence to propose an answer. The general strategy used to bring real-life complexity into a traditionally over-simplified topic is also discussed in terms of its applicability across topics and disciplines. References cited: Jamieson, A. & Radick, G. (2017). Genetic determinism in the genetics curriculum: An exploratory study of the effects of Mendelian and Weldonian emphases. Science Education, 1:577-595. https://doi.org/10.1007/s11191-017-9900-8 Timm, J., Wools, K., & Schmiemann, P. (2022). Secondary Students\u27 Reasoning on Pedigree Problems. CBE life sciences education, 21(1), ar14. https://doi.org/10.1187/cbe.21-01-000