Arguably, the ability to generalize is an essential characteristic of students who succeed in mathematics and computer science. Teachers should be aware of its presence in their classroom and have tools to encourage its existence. Thus, it is important to examine the successful ways that generalization is taught. This systematic review examined and synthesized literature regarding teaching generalization and looked for indicators of success when teaching it. The findings showed that the most common way generalization is taught is through patterning tasks, primarily in K-6. Successful generalization was most frequently assessed by “caught not taught” methods. The primary indicator of success was an algebraic expression which, unfortunately, does not guarantee that generalization has occurred in the mind of the student. In summary, very few methods of teaching generalization have actually been journaled, and there is a dearth of methods to evaluate or assess if generalization has occurred.
As K-12 schools incorporate computer science, one of the challenges they face is preparing teachers to teach their first CS course. Survey responses were collected from teachers each day of a week long professional development, and then at a follow up session near the end of their first semester of implementation. In this paper we discuss teacher responses from their implementation of CS Makers in their middle school classrooms. The professional development sessions used a curriculum developed in our NSF INCLUDES supported CS Makers course with micro:bit hardware. We found that most of the teachers were out of their fields, many were told to teach the class, rather than requesting it, and all had positive results with students.
Background: Variants within factor VIII (F8) are associated with sex-linked hemophilia A and thrombosis, with gene therapy approaches being available for pathogenic variants. Many variants within F8 remain variants of uncertain significance (VUS) or are under-explored as to their connections to phenotypic outcomes. Methods: We assessed data on F8 expression while screening the UniProt, ClinVar, Geno2MP, and gnomAD databases for F8 missense variants; these collectively represent the sequencing of more than a million individuals. Results: For the two F8 isoforms coding for different protein lengths (2351 and 216 amino acids), we observed noncoding variants influencing expression which are also associated with thrombosis risk, with uncertainty as to differences in females and males. Variant analysis identified a severe stratification of potential annotation issues for missense variants in subjects of non-European ancestry, suggesting a need for further defining the genetics of diverse populations. Additionally, few heterozygous female carriers of known pathogenic variants have sufficiently confident phenotyping data, leaving researchers unable to determine subtle, less defined phenotypes. Using structure movement correlations to known pathogenic variants for the VUS, we determined seven clusters of likely pathogenic variants based on screening work. Conclusions: This work highlights the need to define missense variants, especially those for VUS and from subjects of non-European ancestry, as well as the roles of these variants in women’s physiology.
Parkinson's disease is the second most common neurodegenerative disease which is caused by a lack of dopamine in the brain. Parkinson 22 is a form of Parkinson's disease caused by variations in the coiled-coil-helix-coiled-coil-helix domain containing 2 (CHCHD2) protein. This study investigates an aspartic acid-to-alanine swap on amino acid position 130 (D130A) of the CHCHD2 protein. We have employed protein modeling, conservation analysis, and molecular dynamics simulations to gain an understanding of the effects of the D130A variant on CHCHD2 protein structure and movement.
Consuming vegetables poses a challenge for individuals with sitosterolemia, a rare autosomal recessive genetic disorder characterized by heightened intestinal absorption and decreased biliary excretion of plant sterols. Pathogenic mutations in the ATP Binding Cassette Subfamily G Member 5 (ABCG5) and ATP Binding Cassette Subfamily G Member 8 (ABCG8) genes result in sitosterolemia. ABCG5 and ABCG8 form the ATP-binding cassette transporter protein ABCG5/ABCG8 that functions to efflux plant sterols and cholesterol from the liver and small intestine. This study seeks to predict the pathogenicity of the missense swaps G91E, F399C, R419C, and R419G. These variants were selected based on specific placement within the functional domains of ABCG5. Pathogenicity scores were compared to two pathogenic variants using Mutation Assessor, MetaLR, REVEL, CADD, PolyPhen, and SIFT. ConSurf predicted the amino acid position of each missense swap to be conserved, buried, structural, or exposed. Molecular dynamics simulations revealed differences in movement between the variants and the WT. Our results predict that these variants are pathogenic regarding sitosterolemia. These findings contribute to the understanding of genetic factors influencing sitosterolemia and underscore the importance of further investigations to elucidate the clinical implications of these variants for improved diagnostic and therapeutic strategies in managing this rare genetic disorder.
It is important to introduce computer programming concepts to K-12 students in preparation and motivation for college-level programming courses. Furthermore, generalization and abstraction are skills needed in computer science and other STEM majors. The Collaborative Partnership to teach mathematical Reasoning through Computer PRogramming (CPR2) Instructional Model (IM) was developed to use Python programming as a vehicle for explicit instruction in mathematical generalization and abstraction. Students are introduced to programming for the purpose of exploring mathematical concepts. They write code embedded with mathematical general expressions, observe the behavior of those expressions at scale in the execution of their programs, make conjectures about emerging patterns, and write convincing arguments to support these conjectures. During a two-week summer institute in 2020, middle school math teachers participated in professional development using the CPR2 instructional model. Teachers were provided with an introduction to programming and then shown how to apply the instructional model to math concepts while addressing computer science and math standards in the process. During the following fall and spring, the CPR2-trained teachers piloted lessons using Python programming to explore math concepts in their own classrooms. In this paper, details about the instructional model, the collaborative design research process used to refine professional development sessions, the key role of experienced teacher mentors in supporting new participants, and the incorporation of programming into the teachers' math classrooms are detailed. The results of design sessions and the pilot implementation are also discussed.