129 research outputs found
Using Robotics as an Educational Tool in 4-H
Although America is the world leader in science and technology innovation, the educational system is not preparing enough science and technology workers to maintain leadership. In an effort to prepare youth for the 21st century, Nebraska 4-H conducted a 2-day workshop using robotics to teach science, technology, engineering, and math (STEM) concepts. A subsequent competition was held at the State Fair to debut robots to the community. The competition was popular with fair-goers and let youth experiment with their robot designs and programming. To engage more youth, Nebraska will pilot the 4-H CCS curriculum and expand the State Fair competition
Exploring South Africa’s southern frontier : a 20-year vision for polar research through the South African National Antarctic Programme
Abstract: Please refer to full text to view abstrac
A comprehensive assessment of benign genetic variability for neurodegenerative disorders
Over the last few years, as more and more sequencing studies have been performed, it has become apparent that the identification of pathogenic mutations is, more often than not, a complex issue. Here, with a focus on neurodegenerative diseases, we have performed a survey of coding genetic variability that is unlikely to be pathogenic. We have performed whole-exome sequencing in 478 samples derived from several brain banks in the United Kingdom and the United States of America. Samples were included when subjects were, at death, over 60 years of age, had no signs of neurological disease and were subjected to a neuropathological examination, which revealed no evidence of neurodegeneration. This information will be valuable to studies of genetic variability as a causal factor for neurodegenerative syndromes. We envisage it will be particularly relevant for diagnostic laboratories as a filter step to the results being produced by either genome-wide or gene-panel sequencing. We have made this data publicly available at www.alzforum.org/exomes/hex
Optimus Primer: A PCR enrichment primer design program for next-generation sequencing of human exonic regions
Neuro-cognitive mechanisms of conscious and unconscious visual perception: From a plethora of phenomena to general principles
Psychological and neuroscience approaches have promoted much progress in
elucidating the cognitive and neural mechanisms that underlie phenomenal visual
awareness during the last decades. In this article, we provide an overview of
the latest research investigating important phenomena in conscious and
unconscious vision. We identify general principles to characterize conscious and
unconscious visual perception, which may serve as important building blocks for
a unified model to explain the plethora of findings. We argue that in particular
the integration of principles from both conscious and unconscious vision is
advantageous and provides critical constraints for developing adequate
theoretical models. Based on the principles identified in our review, we outline
essential components of a unified model of conscious and unconscious visual
perception. We propose that awareness refers to consolidated
visual representations, which are accessible to the entire brain and therefore
globally available. However, visual awareness not only depends
on consolidation within the visual system, but is additionally the result of a
post-sensory gating process, which is mediated by higher-level cognitive control
mechanisms. We further propose that amplification of visual representations by
attentional sensitization is not exclusive to the domain of conscious
perception, but also applies to visual stimuli, which remain unconscious.
Conscious and unconscious processing modes are highly interdependent with
influences in both directions. We therefore argue that exactly this
interdependence renders a unified model of conscious and unconscious visual
perception valuable. Computational modeling jointly with focused experimental
research could lead to a better understanding of the plethora of empirical
phenomena in consciousness research
Exploring South Africa’s southern frontier: A 20-year vision for polar research through the South African National Antarctic Programme
Antarctica, the sub-Antarctic islands and surrounding Southern Ocean are regarded as one of the planet’s last remaining wildernesses, ‘insulated from threat by [their] remoteness and protection under the Antarctic Treaty System’1 . Antarctica encompasses some of the coldest, windiest and driest habitats on earth. Within the Southern Ocean, sub-Antarctic islands are found between the Sub-Antarctic Front to the north and the Polar Front to the south. Lying in a transition zone between warmer subtropical and cooler Antarctic waters, these islands are important sentinels from which to study climate change.2 A growing body of evidence3,4 now suggests that climatically driven changes in the latitudinal boundaries of these two fronts define the islands’ short- and long-term atmospheric and oceanic circulation patterns. Consequently, sub-Antarctic islands and their associated terrestrial and marine ecosystems offer ideal natural laboratories for studying ecosystem response to change.5 For example, a recent study6 indicates that the shift in the geographical position of the oceanic fronts has disrupted inshore marine ecosystems, with a possible impact on top predators. Importantly, biotic responses are variable as indicated by different population trends of these top predators.7,8 When studied collectively, these variations in species’ demographic patterns point to complex spatial and temporal changes within the broader sub-Antarctic ecosystem, and invite further examination of the interplay between extrinsic and intrinsic drivers
Analysis of neurodegenerative disease-causing genes in dementia with Lewy bodies
Dementia with Lewy bodies (DLB) is a clinically heterogeneous disorder with a substantial burden on healthcare. Despite this, the genetic basis of the disorder is not well defined and its boundaries with other neurodegenerative diseases are unclear. Here, we performed whole exome sequencing of a cohort of 1118 Caucasian DLB patients, and focused on genes causative of monogenic neurodegenerative diseases. We analyzed variants in 60 genes implicated in DLB, Alzheimer's disease, Parkinson's disease, frontotemporal dementia, and atypical parkinsonian or dementia disorders, in order to determine their frequency in DLB. We focused on variants that have previously been reported as pathogenic, and also describe variants reported as pathogenic which remain of unknown clinical significance, as well as variants associated with strong risk. Rare missense variants of unknown significance were found in APP, CHCHD2, DCTN1, GRN, MAPT, NOTCH3, SQSTM1, TBK1 and TIA1. Additionally, we identified a pathogenic GRN p.Arg493* mutation, potentially adding to the diversity of phenotypes associated with this mutation. The rarity of previously reported pathogenic mutations in this cohort suggests that the genetic overlap of other neurodegenerative diseases with DLB is not substantial. Since it is now clear that genetics plays a role in DLB, these data suggest that other genetic loci play a role in this disease.Peer reviewe
Investigating the genetic architecture of dementia with Lewy bodies: a two-stage genome-wide association study
Background Dementia with Lewy bodies is the second most common form of dementia in elderly people but has been overshadowed in the research field, partly because of similarities between dementia with Lewy bodies, Parkinson’s disease, and Alzheimer’s disease. So far, to our knowledge, no large-scale genetic study of dementia with Lewy bodies has been done. To better understand the genetic basis of dementia with Lewy bodies, we have done a genome-wide association study with the aim of identifying genetic risk factors for this disorder.
Methods In this two-stage genome-wide association study, we collected samples from white participants of European ancestry who had been diagnosed with dementia with Lewy bodies according to established clinical or pathological criteria. In the discovery stage (with the case cohort recruited from 22 centres in ten countries and the controls derived from two publicly available database of Genotypes and Phenotypes studies [phs000404.v1.p1 and phs000982.v1.p1] in the USA), we performed genotyping and exploited the recently established Haplotype Reference Consortium panel as the basis for imputation. Pathological samples were ascertained following autopsy in each individual brain bank, whereas clinical samples were collected by clinical teams after clinical examination. There was no specific timeframe for collection of samples. We did association analyses in all participants with dementia with Lewy bodies, and also in only participants with pathological diagnosis. In the replication stage, we performed genotyping of significant and suggestive results from the discovery stage. Lastly, we did a meta-analysis of both stages under a fixed-effects model and used logistic regression to test for association in each stage.
Findings This study included 1743 patients with dementia with Lewy bodies (1324 with pathological diagnosis) and 4454 controls (1216 patients with dementia with Lewy bodies vs 3791 controls in the discovery stage; 527 vs 663 in the replication stage). Results confirm previously reported associations: APOE (rs429358; odds ratio [OR] 2·40, 95% CI 2·14–2·70; p=1·05 × 10–⁴⁸), SNCA (rs7681440; OR 0·73, 0·66–0·81; p=6·39 × 10–¹⁰), and GBA (rs35749011; OR 2·55, 1·88–3·46; p=1·78 × 10–⁹). They also provide some evidence for a novel candidate locus, namely CNTN1 (rs7314908; OR 1·51, 1·27–1·79; p=2·21 × 10–⁶); further replication will be important. Additionally, we estimate the heritable component of dementia with Lewy bodies to be about 36%.
Interpretation Despite the small sample size for a genome-wide association study, and acknowledging the potential biases from ascertaining samples from multiple locations, we present the most comprehensive and well powered genetic study in dementia with Lewy bodies so far. These data show that common genetic variability has a role in the disease
A comprehensive screening of copy number variability in dementia with Lewy bodies
The role of genetic variability in dementia with Lewy bodies (DLB) is now indisputable; however, data regarding copy number variation (CNV) in this disease has been lacking. Here, we used whole-genome genotyping of 1454 DLB cases and 1525 controls to assess copy number variability. We used 2 algorithms to confidently detect CNVs, performed a case-control association analysis, screened for candidate CNVs previously associated with DLB-related diseases, and performed a candidate gene approach to fully explore the data. We identified 5 CNV regions with a significant genome-wide association to DLB; 2 of these were only present in cases and absent from publicly available databases: one of the regions overlapped LAPTM4B, a known lysosomal protein, whereas the other overlapped the NME1 locus and SPAG9. We also identified DLB cases presenting rare CNVs in genes previously associated with DLB or related neurodegenerative diseases, such as SNCA, APP, and MAPT. To our knowledge, this is the first study reporting genome-wide CNVs in a large DLB cohort. These results provide preliminary evidence for the contribution of CNVs in DLB risk. (C) 2019 Elsevier Inc. All rights reserved.Peer reviewe
- …