Hacking Blind Navigation

Independent navigation in unfamiliar and complex environments is a major challenge for blind people. This challenge motivates a multi-disciplinary effort in the CHI community aimed at developing assistive technologies to support the orientation and mobility of blind people, including related disciplines such as accessible computing, cognitive sciences, computer vision, and ubiquitous computing. This workshop intends to bring these communities together to increase awareness on recent advances in blind navigation assistive technologies, benefit from diverse perspectives and expertises, discuss open research challenges, and explore avenues for multi-disciplinary collaborations. Interactions are fostered through a panel on Open Challenges and Avenues for Interdisciplinary Collaboration, Minute-Madness presentations, and a Hands-On Session where workshop participants can hack (design or prototype) new solutions to tackle open research challenges. An expected outcome is the emergence of new collaborations and research directions that can result in novel assistive technologies to support independent blind navigation

The European Solar Telescope

The European Solar Telescope (EST) is a project aimed at studying the magnetic connectivity of the solar atmosphere, from the deep photosphere to the upper chromosphere. Its design combines the knowledge and expertise gathered by the European solar physics community during the construction and operation of state-of-the-art solar telescopes operating in visible and near-infrared wavelengths: the Swedish 1m Solar Telescope, the German Vacuum Tower Telescope and GREGOR, the French Télescope Héliographique pour l'Étude du Magnétisme et des Instabilités Solaires, and the Dutch Open Telescope. With its 4.2 m primary mirror and an open configuration, EST will become the most powerful European ground-based facility to study the Sun in the coming decades in the visible and near-infrared bands. EST uses the most innovative technological advances: the first adaptive secondary mirror ever used in a solar telescope, a complex multi-conjugate adaptive optics with deformable mirrors that form part of the optical design in a natural way, a polarimetrically compensated telescope design that eliminates the complex temporal variation and wavelength dependence of the telescope Mueller matrix, and an instrument suite containing several (etalon-based) tunable imaging spectropolarimeters and several integral field unit spectropolarimeters. This publication summarises some fundamental science questions that can be addressed with the telescope, together with a complete description of its major subsystems

New insights into the genetic etiology of Alzheimer's disease and related dementias

Characterization of the genetic landscape of Alzheimer's disease (AD) and related dementias (ADD) provides a unique opportunity for a better understanding of the associated pathophysiological processes. We performed a two-stage genome-wide association study totaling 111,326 clinically diagnosed/'proxy' AD cases and 677,663 controls. We found 75 risk loci, of which 42 were new at the time of analysis. Pathway enrichment analyses confirmed the involvement of amyloid/tau pathways and highlighted microglia implication. Gene prioritization in the new loci identified 31 genes that were suggestive of new genetically associated processes, including the tumor necrosis factor alpha pathway through the linear ubiquitin chain assembly complex. We also built a new genetic risk score associated with the risk of future AD/dementia or progression from mild cognitive impairment to AD/dementia. The improvement in prediction led to a 1.6- to 1.9-fold increase in AD risk from the lowest to the highest decile, in addition to effects of age and the APOE ε4 allele

Vegetative and productive aspects of organically grown coffee cultivars under shaded and unshaded systems

Although Coffea arabica species has its origin in the African understories, there is great resistance on the part of the Brazilian producers for growing this species under agroforestry systems as they fear that shading reduces production. This study aimed at evaluating some vegetative traits and the productivity of organically grown coffee (Coffea arabica L.) cultivars under shaded and unshaded systems. Twelve treatments consisting of two cultivation systems (shaded and unshaded) and six coffee cultivars were arranged in randomized blocks with four replicates, in a split-plot scheme. Shading was provided by banana (Musa sp.) and coral bean plants (Erythrinaverna). Shading delayed fruit maturation. Late maturation cultivars, such as the Icatu and the Obatã, matured early in both cultivation systems, while medium and early maturation cultivars presented late maturation. Cultivation in the shaded system increased the leaf area and the number of lower branches, decreased the number of productive nodes per branch, and increased the distance between the nodes and the number of leaves present in the branches. Cultivation in the unshaded system presented greater number of plants with branch blight in relation to plants grown in the shade. The productivity of the cultivars was not different, at 30.0 processed bags per hectare in the shaded system, and 25.8 processed bags per hectare in the unshaded system. The most productive cultivars in the shaded system were the Tupi, the Obatã, and the Catuaí, while no differences between cultivars were obtained in the unshaded system

Finding genetically-supported drug targets for Parkinson’s disease using Mendelian randomization of the druggable genome

Parkinson’s disease is a neurodegenerative movement disorder that currently has no disease-modifying treatment, partly owing to inefficiencies in drug target identification and validation. We use Mendelian randomization to investigate over 3,000 genes that encode druggable proteins and predict their efficacy as drug targets for Parkinson’s disease. We use expression and protein quantitative trait loci to mimic exposure to medications, and we examine the causal effect on Parkinson’s disease risk (in two large cohorts), age at onset and progression. We propose 23 drug-targeting mechanisms for Parkinson’s disease, including four possible drug repurposing opportunities and two drugs which may increase Parkinson’s disease risk. Of these, we put forward six drug targets with the strongest Mendelian randomization evidence. There is remarkably little overlap between our drug targets to reduce Parkinson’s disease risk versus progression, suggesting different molecular mechanisms. Drugs with genetic support are considerably more likely to succeed in clinical trials, and we provide compelling genetic evidence and an analysis pipeline to prioritise Parkinson’s disease drug development

SNCA and mTOR Pathway Single Nucleotide Polymorphisms Interact to Modulate the Age at Onset of Parkinson's Disease

Neurological Motor Disorder

Mitochondria function associated genes contribute to Parkinson's Disease risk and later age at onset

Altres ajuts: This work was supported in part by the Intramural Research Program of the National Institute on Aging, National Institutes of Health, Department of Health and Human Services; project ZO1 AG000949.Mitochondrial dysfunction has been implicated in the etiology of monogenic Parkinson's disease (PD). Yet the role that mitochondrial processes play in the most common form of the disease; sporadic PD, is yet to be fully established. Here, we comprehensively assessed the role of mitochondrial function-associated genes in sporadic PD by leveraging improvements in the scale and analysis of PD GWAS data with recent advances in our understanding of the genetics of mitochondrial disease. We calculated a mitochondrial-specific polygenic risk score (PRS) and showed that cumulative small effect variants within both our primary and secondary gene lists are significantly associated with increased PD risk. We further reported that the PRS of the secondary mitochondrial gene list was significantly associated with later age at onset. Finally, to identify possible functional genomic associations we implemented Mendelian randomization, which showed that 14 of these mitochondrial function-associated genes showed functional consequence associated with PD risk. Further analysis suggested that the 14 identified genes are not only involved in mitophagy, but implicate new mitochondrial processes. Our data suggests that therapeutics targeting mitochondrial bioenergetics and proteostasis pathways distinct from mitophagy could be beneficial to treating the early stage of PD