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In recent years, pre-service teacher education programs have recognized the importance of equipping future educators with the necessary skills such as argumentation skills and metacognitive awareness. However, the extent to these skills in ore-service biology teachers remains relatively unexplored. This study aimed to explore the effect of argument-driven inquiry on pre-service biology teachers’ argumentation skills and metacognitive awareness. This study also investigated the correlation between argumentation skills and metacognitive awareness in pre-service biology teachers. This research was conducted as quasi experiment using nonrandomized control group pretest–post-test design with two classes. One class as experiment group (N=44) which participated in series of activities in laboratory work using argument-driven inquiry, and control group (N=44) which participated in the regular laboratory activities. The laboratory work focused on the topic of mendelian genetic. This research was conducted on the second year of pre-service biology teachers in the Department of Biology Education. Data were generated by administrating pre-test and post-test on argumentation skill using open-ended question and metacognitive awareness using Metacognitive Awareness Inventory (MAI). Result showed a significant difference between experimental group and control group in argumentation skills (p value= .016) as well as in metacognitive awareness (p value = .005). However, the correlation between argumentation skills and metacognitive awareness were relatively low (r= -.119). This research findings can be used as suggestions for policy makers and educational institute to integrate argumentation skills and metacognitive awareness in designed for professional development program in teacher training program.

Purpose of Review: Spontaneous coronary artery dissection (SCAD) has been increasingly recognized as a significant cause of acute myocardial infarction (AMI) in young and middle-aged women and arises through mechanisms independent of atherosclerosis. SCAD has a multifactorial etiology that includes environmental, individual, and genetic factors distinct from those typically associated with coronary artery disease. Here, we summarize the current understanding of the genetic factors contributing to the development of SCAD and highlight those factors which differentiate SCAD from atherosclerotic coronary artery disease. Recent Findings: Recent studies have revealed several associated variants with varying effect sizes for SCAD, giving rise to a complex genetic architecture. Associated genes highlight an important role for arterial cells and their extracellular matrix in the pathogenesis of SCAD, as well as notable genetic overlap between SCAD and other systemic arteriopathies such as fibromuscular dysplasia and vascular connective tissue diseases. Further investigation of individual variants (including in the associated gene PHACTR1) along with polygenic score analysis have demonstrated an inverse genetic relationship between SCAD and atherosclerosis as distinct causes of AMI. Summary: SCAD represents an increasingly recognized cause of AMI with opposing clinical and genetic risk factors from that of AMI due to atherosclerosis, and it is often associated with complex underlying genetic conditions. Genetic study of SCAD on a larger scale and with more diverse cohorts will not only further our evolving understanding of a newly defined genetic spectrum for AMI, but it will also inform the clinical utility of integrating genetic testing in AMI prevention and management moving forward. [ABSTRACT FROM AUTHOR]

Mendelian genetics are essential for students seeking to comprehend the complexities of inheritance; although fundamental, these biology concepts are difficult for students to understand. This study examined the effectiveness of task-based learning (TBL) in enhancing the students' conceptual understanding of the Patterns of Mendelian Genetics. A pretest and posttest quasi-experimental research design involved an experimental and a control group. An Intrinsic Motivation Inventory questionnaire was utilized to assess the level of intrinsic motivation for task evaluation for the experimental group. Paired t-test was used to compare the pretest and post-test results. Before the intervention, both groups had a low conceptual understanding of the topic. At the end of the intervention, both groups had significantly increased their performances from pretest to posttest scores. The study revealed that TBL is more effective than Traditional Lecture-Based Instruction (TLI), as seen in their enhanced student performance, implying the effectiveness of the TBL as an innovative instructional approach. Participants from the experimental group expressed enjoyment, competence, and ownership of their task activities, and they did not feel nervous and anxious about doing the tasks. Pearson rcorrelation was used to establish a relationship among the variables. Perceived choice, pressure/tension, and student performance in the experimental group have low positive correlations, and perceived choice, interest/enjoyment, and performance have a negligible correlation. This approach is highly commendable for biology instruction. By illuminating the effectiveness of active learning in improving student's conceptual understanding, this study bridges the gap between theoretical-practical gap in genetics via active learning effectiveness. [ABSTRACT FROM AUTHOR]

Mendelian genetics are essential for students seeking to comprehend the complexities of inheritance; although fundamental, these biology concepts are difficult for students to understand. This study examined the effectiveness of task-based learning (TBL) in enhancing the students' conceptual understanding of the Patterns of Mendelian Genetics. A pretest and posttest quasi-experimental research design involved an experimental and a control group. An Intrinsic Motivation Inventory questionnaire was utilized to assess the level of intrinsic motivation for task evaluation for the experimental group. Paired t-test was used to compare the pretest and post-test results. Before the intervention, both groups had a low conceptual understanding of the topic. At the end of the intervention, both groups had significantly increased their performances from pretest to posttest scores. The study revealed that TBL is more effective than Traditional Lecture-Based Instruction (TLI), as seen in their enhanced student performance, implying the effectiveness of the TBL as an innovative instructional approach. Participants from the experimental group expressed enjoyment, competence, and ownership of their task activities, and they did not feel nervous and anxious about doing the tasks. Pearson r-correlation was used to establish a relationship among the variables. Perceived choice, pressure/tension, and student performance in the experimental group have low positive correlations, and perceived choice, interest/enjoyment, and performance have a negligible correlation. This approach is highly commendable for biology instruction. By illuminating the effectiveness of active learning in improving student’s conceptual understanding, this study bridges the gap between theoretical-practical gap in genetics via active learning effectiveness.

Purpose of Review: Spontaneous coronary artery dissection (SCAD) is a significant cause of acute myocardial infarction that is increasingly recognized in young and middle-aged women. The etiology of SCAD is likely multifactorial and may include the interaction of environmental and individual factors. Here, we summarize the current understanding of the genetic factors contributing to the development of SCAD. Recent Findings: The molecular findings underlying SCAD have been demonstrated to include a combination of rare DNA sequence variants with large effects, common variants contributing to a complex genetic architecture, and variants with intermediate impact. The genes associated with SCAD highlight the role of arterial cells and their extracellular matrix in the pathogenesis of the disease and shed light on the relationship between SCAD and other disorders, including fibromuscular dysplasia and connective tissue diseases. Summary: While up to 10% of affected individuals may harbor a rare variant with large effect, SCAD most often presents as a complex genetic condition. Analyses of larger and more diverse cohorts will continue to improve our understanding of risk susceptibility loci and will also enable consideration of the clinical utility of genetic testing strategies in the management of SCAD. [ABSTRACT FROM AUTHOR]

NUSAP1 encodes a cell cycle‐dependent protein with key roles in mitotic progression, spindle formation, and microtubule stability. Both over‐ and under‐expression of NUSAP1 lead to dysregulation of mitosis and impaired cell proliferation. Through exome sequencing and Matchmaker Exchange, we identified two unrelated individuals with the same recurrent, de novo heterozygous variant (NM_016359.5 c.1209C > A; p.(Tyr403Ter)) in NUSAP1. Both individuals had microcephaly, severe developmental delay, brain abnormalities, and seizures. The gene is predicted to be tolerant of heterozygous loss‐of‐function mutations, and we show that the mutant transcript escapes nonsense mediated decay, suggesting that the mechanism is likely dominant‐negative or toxic gain of function. Single‐cell RNA‐sequencing of an affected individual's post‐mortem brain tissue indicated that the NUSAP1 mutant brain contains all main cell lineages, and that the microcephaly could not be attributed to loss of a specific cell type. We hypothesize that pathogenic variants in NUSAP1 lead to microcephaly possibly by an underlying defect in neural progenitor cells. [ABSTRACT FROM AUTHOR]

Understanding genetics, an important topic in the study of biology, is critical for scientific literacy in agriculture, health, and forensic investigations. However, it has been observed that teachers find genetics difficult to teach and pupils do not perform well in it. Teachers can use expository teaching or active learning methods, but the secondary school curriculum in Malawi advocates the latter. The aim of this study was to find out how genetics is taught and how teachers justify their choice of method. This study used a multi-case design involving six teachers and observed their Mendelian genetics lessons and asked them to justify their choice of teaching method. The findings show that teachers mostly use expository methods utilising lecture and question and answer teaching techniques. Contextual factors such as large classes, limited teaching time, and lack of resources were cited as reasons for their choice of expository techniques. In addition, they said that the topic was abstract and learners could not construct their own understanding. Furthermore, they indicated that they did not know what activities to arrange for the learners. The paper discusses the difficulties experienced in implementing active learning methods in teaching genetics and recommends possible avenues for teacher education and further research in Malawi.

Utilizing an inquiry-learning space (ILS) via the Go-Lab platform, we investigated students' technology acceptance, knowledge integration [KI] process, and learning outcomes of both the high-achiever KI student and low-achiever KI student. This study aimed to understand how students engage in knowledge integration tasks using an inquiry-learning space to learn Mendelian genetics and realize the relationship between student KI and domain knowledge. Using a quasi-experimental design, we examined 41 seventh-grade students in Taiwan completing Mendelian genetics KI tasks in ILS, pre/post-testing of domain knowledge tests, and a technology acceptance questionnaire. The analysis of students' interaction in the ILS and domain knowledge tests was conducted through descriptive statistics, t-tests, Pearson's correlation, and content analysis to indicate the direction and relationship between students' KI processes and learning outcomes. A technology acceptance questionnaire was analyzed through descriptive statistics and Pearson's correlation to reveal whether students accepted learning on the Go-Lab platform. The study showed that (i) students responded positively to the perceived usefulness of the Go-Lab platform, (ii) the high-achiever KI students could gradually construct links from simple to complex and diverse among genetic ideas, and the low-achiever almost built simple links, but (iii) the high-achiever and low-achiever KI students had similar learning outcomes. These findings have implications that the instruction design of knowledge integration tasks promotes students' Mendelian genetics conceptual understanding and KI progress. [ABSTRACT FROM AUTHOR]

This essay documents the century-long efforts of Peter Darby, Ernest S. Salmon, and Ray Neve, all of whom were directors of England’s Hop Research Program. While these scientists engaged in myriad projects, the central story surrounds the development and release of hybrid hop varieties for use in beer. In contrast with the brewing industry that turned toward mechanization and industrial advancements in the twentieth century, the English hop breeding program steadily relied on hand-pollinating characteristic of Mendelian genetics. Crossbreeding, or hybridization, of hops (and scores of other dioicous plants—that is, those with two distinct sexes) traditionally occurred with scientists selecting specimens that exhibited desirable traits that could be traced to their hereditary makeup. The process was painstakingly slow, requiring countless dustings of pollen from male plants onto female flowers. Darby, Salmon, and Neve engaged in this process thousands of times before deciding on which offspring to select from the greenhouses to transplant into fields. Their promising and successful specimens today populate England’s experimental hop garden for their potential in brewing or breeding future crosses; the most outstanding progeny can be found in beers near and far. [ABSTRACT FROM AUTHOR]

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Understanding genetics, an important topic in the study of biology, is critical for scientific literacy in agriculture, health, and forensic investigations. However, it has been observed that teachers find genetics difficult to teach and pupils do not perform well in it. Teachers can use expository teaching or active learning methods, but the secondary school curriculum in Malawi advocates the latter. The aim of this study was to find out how genetics is taught and how teachers justify their choice of method. This study used a multi-case design involving six teachers and observed their Mendelian genetics lessons and asked them to justify their choice of teaching method. The findings show that teachers mostly use expository methods utilizing lecture and question and answer teaching techniques. Contextual factors such as large classes, limited teaching time, and lack of resources were cited as reasons for their choice of expository techniques. In addition, they said that the topic was abstract and learners could not construct their own understanding. Furthermore, they indicated that they did not know what activities to arrange for the learners. The paper discusses the difficulties experienced in implementing active learning methods in teaching genetics and recommends possible avenues for teacher education and further research in Malawi. [ABSTRACT FROM AUTHOR]

This paper contributes to the ongoing reassessment of the controversy between William Bateson and Karl Pearson by characterising what we call "Batesonian Mendelism" and "Pearsonian biometry" as coherent and competing scientific outlooks. Contrary to the thesis that such a controversy stemmed from diverging theoretical commitments on the nature of heredity and evolution, we argue that Pearson's and Bateson's alternative views on those processes ultimately relied on different appraisals of the methodological value of the statistical apparatus developed by Francis Galton. Accordingly, we contend that Bateson's belief in the primacy of cross-breeding experiments over statistical analysis constituted a minimal methodological unifying condition ensuring the internal coherence of Batesonian Mendelism. Moreover, this same belief implied a view of the study of heredity and evolution as an experimental endeavour and a conception of heredity and evolution as fundamentally discontinuous processes. Similarly, we identify a minimal methodological unifying condition for Pearsonian biometry, which we characterise as the view that experimental methods had to be subordinate to statistical analysis, according to methodological standards set by biometrical research. This other methodological commitment entailed conceiving the study of heredity and evolution as subsumable under biometry and primed Pearson to regard discontinuous hereditary and evolutionary processes as exceptions to a statistical norm. Finally, we conclude that Batesonian Mendelism and Pearsonian biometry represented two potential versions of a single genetics-based evolutionary synthesis since the methodological principles and the phenomena that played a central role in the former were also acknowledged by the latter—albeit as fringe cases—and conversely. [ABSTRACT FROM AUTHOR]

The Genotype-Phenotype (G-P) distinction was proposed in the context of Mendelian genetics, in the wake of late nineteenth century studies about heredity. In this paper, we provide a conceptual analysis that highlights that the G-P distinction was grounded on three pillars: observability, transmissibility, and causality. Originally, the genotype is the non-observable and transmissible cause of its observable and non-transmissible effect, the phenotype. We argue that the current developments of biology have called the validity of such pillars into question. First, molecular biology has unveiled the putative material substrate of the genotype (qua DNA), making it an observable object. Second, numerous findings on non-genetic heredity suggest that some phenotypic traits can be directly transmitted. Third, recent organicist approaches to biological phenomena have emphasized the reciprocal causality between parts of a biological system, which notably applies to the relation between genotypes and phenotypes. As a consequence, we submit that the G-P distinction has lost its general validity, although it can still apply to specific situations. This calls for forging new frameworks and concepts to better describe heredity and development. [ABSTRACT FROM AUTHOR]

Aims Catecholaminergic polymorphic ventricular tachycardia (CPVT) and short QT syndrome (SQTS) are inherited arrhythmogenic disorders that can cause sudden death. Numerous genes have been reported to cause these conditions, but evidence supporting these gene–disease relationships varies considerably. To ensure appropriate utilization of genetic information for CPVT and SQTS patients, we applied an evidence-based reappraisal of previously reported genes. Methods and results Three teams independently curated all published evidence for 11 CPVT and 9 SQTS implicated genes using the ClinGen gene curation framework. The results were reviewed by a Channelopathy Expert Panel who provided the final classifications. Seven genes had definitive to moderate evidence for disease causation in CPVT, with either autosomal dominant (RYR2, CALM1, CALM2, CALM3) or autosomal recessive (CASQ2, TRDN, TECRL) inheritance. Three of the four disputed genes for CPVT (KCNJ2, PKP2, SCN5A) were deemed by the Expert Panel to be reported for phenotypes that were not representative of CPVT, while reported variants in a fourth gene (ANK2) were too common in the population to be disease-causing. For SQTS, only one gene (KCNH2) was classified as definitive, with three others (KCNQ1, KCNJ2, SLC4A3) having strong to moderate evidence. The majority of genetic evidence for SQTS genes was derived from very few variants (five in KCNJ2 , two in KCNH2 , one in KCNQ1 / SLC4A3). Conclusions Seven CPVT and four SQTS genes have valid evidence for disease causation and should be included in genetic testing panels. Additional genes associated with conditions that may mimic clinical features of CPVT/SQTS have potential utility for differential diagnosis. [ABSTRACT FROM AUTHOR]

Purpose: Developmentally regulated Guanosine-5'-triphosphate-binding protein 1 (DRG1) is a highly conserved member of a class of GTPases implicated in translation. Although the expression of mammalian DRG1 is elevated in the central nervous system during development, and its function has been implicated in fundamental cellular processes, no pathogenic germline variants have yet been identified. Here, we characterize the clinical and biochemical consequences of DRG1 variants., Methods: We collate clinical information of 4 individuals with germline DRG1 variants and use in silico, in vitro, and cell-based studies to study the pathogenicity of these alleles., Results: We identified private germline DRG1 variants, including 3 stop-gained p.Gly54 ∗ , p.Arg140 ∗ , p.Lys263 ∗ , and a p.Asn248Phe missense variant. These alleles are recessively inherited in 4 affected individuals from 3 distinct families and cause a neurodevelopmental disorder with global developmental delay, primary microcephaly, short stature, and craniofacial anomalies. We show that these loss-of-function variants (1) severely disrupt DRG1 messenger RNA/protein stability in patient-derived fibroblasts, (2) impair its GTPase activity, and (3) compromise its binding to partner protein ZC3H15. Consistent with the importance of DRG1 in humans, targeted inactivation of mouse Drg1 resulted in preweaning lethality., Conclusion: Our work defines a new Mendelian disorder of DRG1 deficiency. This study highlights DRG1's importance for normal mammalian development and underscores the significance of translation factor GTPases in human physiology and homeostasis., Competing Interests: Conflict of Interest Maryam Najafi and Salem Alawbathani are employees of Centogene. All other authors declare no conflicts of interest., (Copyright © 2023 The Authors. Published by Elsevier Inc. All rights reserved.)

Enabling discovery across the spectrum of rare and common diseases requires the integration of biological knowledge with clinical data; however, differences in terminologies present a major barrier. For example, the Human Phenotype Ontology (HPO) is the primary vocabulary for describing features of rare diseases, while most clinical encounters use International Classification of Diseases (ICD) billing codes. ICD codes are further organized into clinically meaningful phenotypes via phecodes. Despite their prevalence, no robust phenome-wide disease mapping between HPO and phecodes/ICD exists. Here, we synthesize evidence using diverse sources and methods-including text matching, the National Library of Medicine's Unified Medical Language System (UMLS), Wikipedia, SORTA, and PheMap-to define a mapping between phecodes and HPO terms via 38 950 links. We evaluate the precision and recall for each domain of evidence, both individually and jointly. This flexibility permits users to tailor the HPO-phecode links for diverse applications along the spectrum of monogenic to polygenic diseases., (© The Author(s) 2023. Published by Oxford University Press on behalf of the American Medical Informatics Association.)