Ice-cored moraine degradation mapped and quantified using an unmanned aerial vehicle: a case study from a polythermal glacier in Svalbard

Ice-cored lateral–frontal moraines are common at the margins of receding high-Arctic valley glaciers, but the preservation potential of these features within the landform record is unclear. Recent climatic amelioration provides an opportunity to study the morphological evolution of these landforms as they de-ice. This is important because high-Arctic glacial landsystems have been used as analogues for formerly glaciated areas in the mid-latitudes. This study uses SfM (Structure-from-Motion) photogrammetry and a combination of archive aerial and UAV (unmanned aerial vehicle) derived imagery to investigate the degradation of an ice-cored lateral–frontal moraine at Austre Lovénbreen, Svalbard. Across the study area as a whole, over an 11-year period, the average depth of surface lowering was − 1.75 ± 0.89 m. The frontal sections of the moraine showed low or undetectable rates of change. Spatially variable rates of surface lowering are associated with differences in the quantity of buried ice within the structure of the moraine. Morphological change was dominated by surface lowering, with limited field evidence of degradation via back-wastage. This permits the moraine a greater degree of stability than previously observed at other sites in Svalbard. It is unclear whether the end point will be a fully stabilised ice-cored moraine, in equilibrium with its environment, or an ice-free lateral–frontal moraine complex. Controls on geomorphological change (e.g. topography and climate) and the preservation potential of the lateral–frontal moraine are discussed. The methods used by this research also demonstrate the potential value of SfM photogrammetry and unmanned aerial vehicles for monitoring environmental change and are likely to have wider applications in other geoscientific sub-disciplines

Large-scale discovery of novel genetic causes of developmental disorders

Despite three decades of successful, predominantly phenotype-driven discovery of the genetic causes of monogenic disorders1, up to half of children with severe developmental disorders of probable genetic origin remain without a genetic diagnosis. Particularly challenging are those disorders rare enough to have eluded recognition as a discrete clinical entity, those with highly variable clinical manifestations, and those that are difficult to distinguish from other, very similar, disorders. Here we demonstrate the power of using an unbiased genotype-driven approach2 to identify subsets of patients with similar disorders. By studying 1,133 children with severe, undiagnosed developmental disorders, and their parents, using a combination of exome sequencing3,4,5,6,7,8,9,10,11 and array-based detection of chromosomal rearrangements, we discovered 12 novel genes associated with developmental disorders. These newly implicated genes increase by 10% (from 28% to 31%) the proportion of children that could be diagnosed. Clustering of missense mutations in six of these newly implicated genes suggests that normal development is being perturbed by an activating or dominant-negative mechanism. Our findings demonstrate the value of adopting a comprehensive strategy, both genome-wide and nationwide, to elucidate the underlying causes of rare genetic disorders

The use of live attenuated bacteria as a delivery system for heterologous antigens

Live attenuated mutants of several pathogenic bacteria have been exploited as potential vaccine vectors for heterologous antigen delivery by the mucosal route. Such live vectors offer the advantage of potential delivery in a single oral, intranasal or inhalational dose, stimulating both systemic and mucosal immune responses. Over the years, a range of strategies have been developed to allow controlled and stable delivery of antigens and improved immunogenicity where required. Most of these approaches have been evaluated in Salmonella vaccine vectors and, as a result, several live attenuated recombinant Salmonella vaccines are now in human clinical trials. In this review, these strategies and their use in the development of a delivery system for the Yersinia pestis V antigen are described

Estimating the hidden number of scrapie affected holdings in great Britain using a simple, truncated count model allowing for heterogeneity

None of the current surveillance streams monitoring the presence of scrapie in Great Britain provide a comprehensive and unbiased estimate of the prevalence of the disease at the holding level. Previous work to estimate the under-ascertainment adjusted prevalence of scrapie in Great Britain applied multiple-list capture-recapture methods. The enforcement of new control measures on scrapie-affected holdings in 2004 has stopped the overlapping between surveillance sources and, hence, the application of multiple-list capture-recapture models. Alternative methods, still under the capture-recapture methodology, relying on repeated entries in one single list have been suggested in these situations. In this article, we apply one-list capture-recapture approaches to data held on the Scrapie Notifications Database to estimate the undetected population of scrapie-affected holdings with clinical disease in Great Britain for the years 2002, 2003, and 2004. For doing so, we develop a new diagnostic tool for indication of heterogeneity as well as a new understanding of the Zelterman and Chao's lower bound estimators to account for potential unobserved heterogeneity. We demonstrate that the Zelterman estimator can be viewed as a maximum likelihood estimator for a special, locally truncated Poisson likelihood equivalent to a binomial likelihood. This understanding allows the extension of the Zelterman approach by means of logistic regression to include observed heterogeneity in the form of covariates-in case studied here, the holding size and country of origin. Our results confirm the presence of substantial unobserved heterogeneity supporting the application of our two estimators. The total scrapie-affected holding population in Great Britain is around 300 holdings per year. None of the covariates appear to inform the model significantly