Dedication

This special issue is dedicated to the memory of Susan Vajoczki, who passed away in October 2012. As Co-Chair of the 2012 International Society for the Scholarship of Teaching and Learning (ISSOTL) Conference and a past participant in the International Network for Learning & Teaching Geography in Higher Education (INLT) Writing Groups on which the initiative described in this issue was based, Sue recognized the potential value of attempting a collaborative writing initiative in the ISSOTL context. It was she who initially proposed the idea during the 2011 conference in Milwaukee, and she contributed actively and enthusiastically to the project’s success right up until the moment of her passing. Anyone who had the privilege of working with her knows how remarkably dedicated she was to enhancing teaching and learning in higher education; the creation of this initiative and the work it has generated is still further evidence of her commitment and vision

Exploring SoTL through international collaborative writing groups

This article outlines an initiative to explore aspects of the Scholarship of Teaching and Learning (SoTL) through facilitating international collaborative writing groups (ICWGs) in a year-long process. The principles and methods by which the topics and groups were selected and how the writing process was supported are described, and an initial discussion of the initiative’s outcomes and the participants’experience is provided. The article concludes with a brief introduction to the set of papers produced by the groups included in this special issue

Launching a Journal About and Through Students as Partners

Editorial of first issue of the International Journal for Student as Partners

Genomic and physiological resilience in extreme environments are associated with a secure attachment style

Understanding individual capability to adjust to protracted confinement and isolation may inform adaptive plasticity and disease vulnerability/resilience, and may have long-term implications for operations requiring prolonged presence in distant and restricted environments. Individual coping depends on many different factors encompassing psychological dispositional traits, endocrine reactivity and their underlying molecular mechanisms (e.g. gene expression). A positive view of self and others (secure attachment style) has been proposed to promote individual resilience under extreme environmental conditions. Here, we tested this hypothesis and investigated the underlying molecular mechanisms in 13 healthy volunteers confined and isolated for 12 months in a research station located 1670 km away from the south geographic pole on the Antarctic Plateau at 3233 m above sea level. Study participants, stratified for attachment style, were characterised longitudinally (before, during and after confinement) for their psychological appraisal of the stressful nature of the expedition, diurnal fluctuations in endocrine stress reactivity, and gene expression profiling (transcriptomics). Predictably, a secure attachment style was associated with reduced psychological distress and endocrine vulnerability to stress. In addition, while prolonged confinement and isolation remarkably altered overall patterns of gene expression, such alteration was largely reduced in individuals characterised by a secure attachment style. Furthermore, increased resilience was associated with a reduced expression of genes involved in energy metabolism (mitochondrial function and oxidative phosphorylation). Ultimately, our data indicate that a secure attachment style may favour individual resilience in extreme environments and that such resilience can be mapped onto identifiable molecular substrates

Microbial diversity within the vicinity of the Antarctic Concordia Station - an analog for human exploration sites on Mars or the icy moons of Jupiter or Saturn

The extreme terrestrial environment of the Antarctic ice sheet serves as an excellent probing ground for the adaptation of extremotolerant microorganisms. To inhabit this hostile environment, microorganisms resist sub-zero temperatures, wide temperature fluctuations, high incidence of solar UV radiation, desiccation, and very low nutrient availability. Located on a 3200 meter-high plateau in Antarctica, the Concordia Station is a remote, isolated habitat, providing an ideal location to monitor the indigenous microbial diversity and human-associated bacterial dispersal on the surface snow. In this study, (ESA project No. AO-13-Concordia-23) surface snow was sampled monthly at three areas varying in proximity (10 m, 500 m, and 1 km) to the Concordia Station across two years (March 2015 to December 2016). Snow samples from the months January, March, May, July, September, and November of both years (n=33) were phylogenetically profiled via sequencing of the 16S rRNA gene to identify microbial presence and abundance with respect to seasonal changes and human activity. While harboring low microbial diversity, the surface snow samples were characterized by heterogeneous microbiomes. Interestingly, snow samples were found to have a core microbiome consisting of the genera Acinetobacter, Micrococcus, Delftia, Bacillus, Enhydrobacter, Cutibacterium, and Alcanivorax, which persisted regardless of the measured environmental factors and level of human activity. Ultimately, this study will further inform improvements or modifications to the existing techniques to interrogate the microbial ecology in extreme (sub-zero) environments as well as provide suggestions for future life-detection driven space missions

Associations of common breast cancer susceptibility alleles with risk of breast cancer subtypes in BRCA1 and BRCA2 mutation carriers

Peer reviewedPublisher PD

Evaluation of polygenic risk scores for breast and ovarian cancer risk prediction in BRCA1 and BRCA2 mutation carriers

Background: Genome-wide association studies (GWAS) have identified 94 common single-nucleotide polymorphisms (SNPs) associated with breast cancer (BC) risk and 18 associated with ovarian cancer (OC) risk. Several of these are also associated with risk of BC or OC for women who carry a pathogenic mutation in the high-risk BC and OC genes BRCA1 or BRCA2. The combined effects of these variants on BC or OC risk for BRCA1 and BRCA2 mutation carriers have not yet been assessed while their clinical management could benefit from improved personalized risk estimates. Methods: We constructed polygenic risk scores (PRS) using BC and OC susceptibility SNPs identified through population-based GWAS: for BC (overall, estrogen receptor [ER]-positive, and ER-negative) and for OC. Using data from 15 252 female BRCA1 and 8211 BRCA2 carriers, the association of each PRS with BC or OC risk was evaluated using a weighted cohort approach, with time to diagnosis as the outcome and estimation of the hazard ratios (HRs) per standard deviation increase in the PRS. Results: The PRS for ER-negative BC displayed the strongest association with BC risk in BRCA1 carriers (HR = 1.27, 95% confidence interval [CI] = 1.23 to 1.31, P = 8.2 x 10(53)). In BRCA2 carriers, the strongest association with BC risk was seen for the overall BC PRS (HR = 1.22, 95% CI = 1.17 to 1.28, P = 7.2 x 10(-20)). The OC PRS was strongly associated with OC risk for both BRCA1 and BRCA2 carriers. These translate to differences in absolute risks (more than 10% in each case) between the top and bottom deciles of the PRS distribution; for example, the OC risk was 6% by age 80 years for BRCA2 carriers at the 10th percentile of the OC PRS compared with 19% risk for those at the 90th percentile of PRS. Conclusions: BC and OC PRS are predictive of cancer risk in BRCA1 and BRCA2 carriers. Incorporation of the PRS into risk prediction models has promise to better inform decisions on cancer risk management

BRCA2 polymorphic stop codon K3326X and the risk of breast, prostate, and ovarian cancers

Background: The K3326X variant in BRCA2 (BRCA2*c.9976A>T; p.Lys3326*; rs11571833) has been found to be associated with small increased risks of breast cancer. However, it is not clear to what extent linkage disequilibrium with fully pathogenic mutations might account for this association. There is scant information about the effect of K3326X in other hormone-related cancers. Methods: Using weighted logistic regression, we analyzed data from the large iCOGS study including 76 637 cancer case patients and 83 796 control patients to estimate odds ratios (ORw) and 95% confidence intervals (CIs) for K3326X variant carriers in relation to breast, ovarian, and prostate cancer risks, with weights defined as probability of not having a pathogenic BRCA2 variant. Using Cox proportional hazards modeling, we also examined the associations of K3326X with breast and ovarian cancer risks among 7183 BRCA1 variant carriers. All statistical tests were two-sided. Results: The K3326X variant was associated with breast (ORw = 1.28, 95% CI = 1.17 to 1.40, P = 5.9x10- 6) and invasive ovarian cancer (ORw = 1.26, 95% CI = 1.10 to 1.43, P = 3.8x10-3). These associations were stronger for serous ovarian cancer and for estrogen receptor–negative breast cancer (ORw = 1.46, 95% CI = 1.2 to 1.70, P = 3.4x10-5 and ORw = 1.50, 95% CI = 1.28 to 1.76, P = 4.1x10-5, respectively). For BRCA1 mutation carriers, there was a statistically significant inverse association of the K3326X variant with risk of ovarian cancer (HR = 0.43, 95% CI = 0.22 to 0.84, P = .013) but no association with breast cancer. No association with prostate cancer was observed. Conclusions: Our study provides evidence that the K3326X variant is associated with risk of developing breast and ovarian cancers independent of other pathogenic variants in BRCA2. Further studies are needed to determine the biological mechanism of action responsible for these associations