Supporting the learning of deaf students in higher education: a case study at Sheffield Hallam University

This article is an examination of the issues surrounding support for the learning of deaf students in higher education (HE). There are an increasing number of deaf students attending HE institutes, and as such provision of support mechanisms for these students is not only necessary but essential. Deaf students are similar to their hearing peers, in that they will approach their learning and require differing levels of support dependant upon the individual. They will, however, require a different kind of support, which can be technical or human resource based. This article examines the issues that surround supporting deaf students in HE with use of a case study of provision at Sheffield Hallam University (SHU), during the academic year 1994-95. It is evident that by considering the needs of deaf students and making changes to our teaching practices that all students can benefit

Panel sequencing links rare, likely damaging gene variants with distinct clinical phenotypes and outcomes in juvenile-onset SLE

OBJECTIVES: Juvenile-onset systemic lupus erythematosus (jSLE) affects 15–20% of lupus patients. Clinical heterogeneity between racial groups, age groups and individual patients suggests variable pathophysiology. This study aimed to identify highly penetrant damaging mutations in genes associated with SLE/SLE-like disease in a large national cohort (UK JSLE Cohort Study) and compare demographic, clinical and laboratory features in patient sub-cohorts with ‘genetic’ SLE vs remaining SLE patients. METHODS: Based on a sequencing panel designed in 2018, target enrichment and next-generation sequencing were performed in 348 patients to identify damaging gene variants. Findings were integrated with demographic, clinical and treatment related datasets. RESULTS: Damaging gene variants were identified in ∼3.5% of jSLE patients. When compared with the remaining cohort, ‘genetic’ SLE affected younger children and more Black African/Caribbean patients. ‘Genetic’ SLE patients exhibited less organ involvement and damage, and neuropsychiatric involvement developed over time. Less aggressive first line treatment was chosen in ‘genetic’ SLE patients, but more second and third line agents were used. ‘Genetic’ SLE associated with anti-dsDNA antibody positivity at diagnosis and reduced ANA, anti-LA and anti-Sm antibody positivity at last visit. CONCLUSION: Approximately 3.5% of jSLE patients present damaging gene variants associated with younger age at onset, and distinct clinical features. As less commonly observed after treatment induction, in ‘genetic’ SLE, autoantibody positivity may be the result of tissue damage and explain reduced immune complex-mediated renal and haematological involvement. Routine sequencing could allow for patient stratification, risk assessment and target-directed treatment, thereby increasing efficacy and reducing toxicity

A modified sequence capture approach allowing standard and methylation analyses of the same enriched genomic DNA sample

Background: Bread wheat has a large complex genome that makes whole genome resequencing costly. Therefore, genome complexity reduction techniques such as sequence capture make re-sequencing cost effective. With a high-quality draft wheat genome now available it is possible to design capture probe sets and to use them to accurately genotype and anchor SNPs to the genome. Furthermore, in addition to genetic variation, epigenetic variation provides a source of natural variation contributing to changes in gene expression and phenotype that can be profiled at the base pair level using sequence capture coupled with bisulphite treatment. Here, we present a new 12 Mbp wheat capture probe set, that allows both the profiling of genotype and methylation from the same DNA sample. Furthermore, we present a method, based on Agilent SureSelect Methyl-Seq, that will use a single capture assay as a starting point to allow both DNA sequencing and methyl-seq. Results: Our method uses a single capture assay that is sequentially split and used for both DNA sequencing and methyl-seq. The resultant genotype and epi-type data is highly comparable in terms of coverage and SNP/methylation site identification to that generated from separate captures for DNA sequencing and methyl-seq. Furthermore, by defining SNP frequencies in a diverse landrace from the Watkins collection we highlight the importance of having genotype data to prevent false positive methylation calls. Finally, we present the design of a new 12 Mbp wheat capture and demonstrate its successful application to re-sequence wheat. Conclusions: We present a cost-effective method for performing both DNA sequencing and methyl-seq from a single capture reaction thus reducing reagent costs, sample preparation time and DNA requirements for these complementary analyses

Dynamics of Trusting in Translation Project Management Leaps of Faith and Balancing Acts

This paper examines the work of project managers in two UK-based translation companies. Drawing on participant observation, interviews, and artifacts from field sites, our analysis focuses on the ways in which trust is developed and maintained in the relationships that project managers build, on the one hand, with the clients who commission them to undertake translation projects, and, on the other, with freelance translators who perform the translation work. The project manager’s ability both to confer and to instill trust is highlighted as key to the successful operation of the company. Conceptualizing trust as a dynamic process, we consider what this process of trusting entails in this context: positive expectations visà-vis the other parties; willingness to expose oneself to vulnerabilities; construction of bases for suspending doubts and uncertainties (leaps of faith). We observe the important role of communication and discursive strategies in building and maintaining trust and draw conclusions for translator education

Dynamics of Trusting in Translation Project Management Leaps of Faith and Balancing Acts

This paper examines the work of project managers in two UK-based translation companies. Drawing on participant observation, interviews, and artifacts from field sites, our analysis focuses on the ways in which trust is developed and maintained in the relationships that project managers build, on the one hand, with the clients who commission them to undertake translation projects, and, on the other, with freelance translators who perform the translation work. The project manager’s ability both to confer and to instill trust is highlighted as key to the successful operation of the company. Conceptualizing trust as a dynamic process, we consider what this process of trusting entails in this context: positive expectations visà-vis the other parties; willingness to expose oneself to vulnerabilities; construction of bases for suspending doubts and uncertainties (leaps of faith). We observe the important role of communication and discursive strategies in building and maintaining trust and draw conclusions for translator education