Small Unmanned Aircraft System Operator Compliance with Visual Line of Sight Requirements

Operating small unmanned aircraft systems (sUAS) beyond visual line of sight (BVLOS) without appropriate waivers and risk mitigations presents a serious hazard to manned aircraft and other users of the National Airspace System. According to federal regulations codified in 14 CFR 107 and PL 112-95 Sec. 336, sUAS operators are required to fly their craft within visual line of sight. Currently, no data exists to determine if operators are compliant with these rules. The authors sought to conduct an exploratory research study to determine the distance operators fly their sUAS craft and evaluate the likelihood of remaining in visual contact using modeling techniques. Using the DJI AeroScope detection device, the authors sampled 30 days of sUAS flight data from a location in the southern U.S. Collected data included operator location, unmanned aircraft model, flight telemetry, and other ancillary information. The authors amassed data for 1,013 sUAS flights, however, only 110 flights included the necessary information to determine distance information between the operator and aerial vehicle. Using Greening’s (1976) visual modeling technique, the authors calculated maximum visibility distances for the sUAS models based on size and human visibility limitations, and compared them against detected distance findings. The authors determined that 5.5% of the detected flights were flown at distances exceeding human visual limits. The authors plan to conduct future field studies to compare the calculated visibility models contained in this paper in field test conditions

Evaluating Small UAS Operations and National Airspace System Interference Using AeroScope

A recent rash of near mid-air collisions coupled with the widespread proliferation of small unmanned aircraft systems (sUAS) raise concerns that integration is posing additional risk to the National Airspace System. In 2016, sUAS sighting reports by manned aircraft pilots averaged 147 per month. In the first three quarters of 2017, sUAS sightings jumped to 188 per month. The purpose of this study was to evaluate sUAS operator behavior to determine potential interference with aviation operations. While previous research has indeed yielded findings about operator behavior, such studies were generally based on data derived from Aviation Safety Reporting System filings or the UAS sighting report database maintained by the Federal Aviation Administration. In this study, the authors partnered with a UAS technology company to deploy an AeroScope, a passive radiofrequency detection device, to detect UAS flight activity in an urban area. While the device was limited to collecting flight information from only DJImanufactured platforms, it is estimated that the company holds a market share in excess of 70% providing a reasonable barometer for sUAS activity in the sample area. Over the 19-day sample period, the AeroScope device recorded 258 detections of 77 unique sUAS platforms. The authors assessed sUAS operator behavioral characteristics, including: UAS models, operating altitudes, preferred flying days and times, flight durations, and operating locations. The authors assessed 93 potential violations of 14 CFR 107 regulations, including controlled airspace breaches, exceeding maximum flight altitudes, and flight outside of daylight or civil twilight hours. The authors concluded that UAS activity in the sample area posed potential conflicts with a runway visual approach, created a collision hazard with three heliports, and heightened risk for visual flight rules operations underneath a controlled airspace shelf. The authors determined existing sUAS geofencing systems were ineffective at deterring sUAS activity unless they imposed flight restrictions in addition to hazard notification

Evaluating Small UAS Near Midair Collision Risk Using AeroScope and ADS-B

As small unmanned aircraft systems (sUAS) continue to proliferate in the National Airspace System (NAS), near midair collisions are becoming more common. In late 2017, the National Transportation Safety Board released a report detailing the first confirmed midair collision between a sUAS and manned aircraft in the United States. In February 2018, a video of a sUAS maneuvering around a passenger jetliner on approach to a Las Vegas airport went viral on YouTube. Just months later, a helicopter instructor pilot reported performing evasive maneuvers to avoid colliding with a sUAS, resulting in a non-fatal crash. From 2014 to 2018 the Federal Aviation Administration (FAA) recorded 6,117 reports of near encounters between manned and unmanned aircraft within the NAS (Government Accountability Office [GAO], 2018). In their report, the GAO (2018) highlighted the need for additional operational data to aid the FAA’s management of safety risks posed by unmanned aircraft. The purpose of this study was to evaluate aviation interference and safety hazards caused by unmanned aircraft at an airport in Class C airspace. Using a passive RF sUAS detection device known as the AeroScope, the authors collected sUAS operations data for 13 days at Daytona Beach International Airport in Florida. While the study was limited to DJI-manufactured sUAS, the results yielded detailed operational information on 190 sUAS flights that had been conducted during the sampling period. The authors identified several operator behaviors including preferred sUAS models, flight days and times, common operating locations, and operational altitudes. Operational data was compared against published FAA UAS Facility Maps (UASFM) to examine potential risk areas. Additionally, sUAS detections were compared against historical ADS-B information to examine for potential midair collisions, yielding several notable case studies. The authors evaluated the effectiveness of existing geofencing infrastructure and provided recommendations for integration with the Low Altitude Authorization and Notification Capability (LAANC) system. The paper culminates with a proposal for integrating LAANC usage data into existing aviation information sharing infrastructure to improve manned pilot situational awareness of sUAS activity within the NAS

Common and rare variant association analyses in amyotrophic lateral sclerosis identify 15 risk loci with distinct genetic architectures and neuron-specific biology

Amyotrophic lateral sclerosis (ALS) is a fatal neurodegenerative disease with a lifetime risk of one in 350 people and an unmet need for disease-modifying therapies. We conducted a cross-ancestry genome-wide association study (GWAS) including 29,612 patients with ALS and 122,656 controls, which identified 15 risk loci. When combined with 8,953 individuals with whole-genome sequencing (6,538 patients, 2,415 controls) and a large cortex-derived expression quantitative trait locus (eQTL) dataset (MetaBrain), analyses revealed locus-specific genetic architectures in which we prioritized genes either through rare variants, short tandem repeats or regulatory effects. ALS-associated risk loci were shared with multiple traits within the neurodegenerative spectrum but with distinct enrichment patterns across brain regions and cell types. Of the environmental and lifestyle risk factors obtained from the literature, Mendelian randomization analyses indicated a causal role for high cholesterol levels. The combination of all ALS-associated signals reveals a role for perturbations in vesicle-mediated transport and autophagy and provides evidence for cell-autonomous disease initiation in glutamatergic neurons. A cross-ancestry genome-wide association meta-analysis of amyotrophic lateral sclerosis (ALS) including 29,612 patients with ALS and 122,656 controls identifies 15 risk loci with distinct genetic architectures and neuron-specific biology

Common and rare variant association analyses in amyotrophic lateral sclerosis identify 15 risk loci with distinct genetic architectures and neuron-specific biology

Amyotrophic lateral sclerosis (ALS) is a fatal neurodegenerative disease with a lifetime risk of one in 350 people and an unmet need for disease-modifying therapies. We conducted a cross-ancestry genome-wide association study (GWAS) including 29,612 patients with ALS and 122,656 controls, which identified 15 risk loci. When combined with 8,953 individuals with whole-genome sequencing (6,538 patients, 2,415 controls) and a large cortex-derived expression quantitative trait locus (eQTL) dataset (MetaBrain), analyses revealed locus-specific genetic architectures in which we prioritized genes either through rare variants, short tandem repeats or regulatory effects. ALS-associated risk loci were shared with multiple traits within the neurodegenerative spectrum but with distinct enrichment patterns across brain regions and cell types. Of the environmental and lifestyle risk factors obtained from the literature, Mendelian randomization analyses indicated a causal role for high cholesterol levels. The combination of all ALS-associated signals reveals a role for perturbations in vesicle-mediated transport and autophagy and provides evidence for cell-autonomous disease initiation in glutamatergic neurons. A cross-ancestry genome-wide association meta-analysis of amyotrophic lateral sclerosis (ALS) including 29,612 patients with ALS and 122,656 controls identifies 15 risk loci with distinct genetic architectures and neuron-specific biology

Common and rare variant association analyses in amyotrophic lateral sclerosis identify 15 risk loci with distinct genetic architectures and neuron-specific biology

A cross-ancestry genome-wide association meta-analysis of amyotrophic lateral sclerosis (ALS) including 29,612 patients with ALS and 122,656 controls identifies 15 risk loci with distinct genetic architectures and neuron-specific biology. Amyotrophic lateral sclerosis (ALS) is a fatal neurodegenerative disease with a lifetime risk of one in 350 people and an unmet need for disease-modifying therapies. We conducted a cross-ancestry genome-wide association study (GWAS) including 29,612 patients with ALS and 122,656 controls, which identified 15 risk loci. When combined with 8,953 individuals with whole-genome sequencing (6,538 patients, 2,415 controls) and a large cortex-derived expression quantitative trait locus (eQTL) dataset (MetaBrain), analyses revealed locus-specific genetic architectures in which we prioritized genes either through rare variants, short tandem repeats or regulatory effects. ALS-associated risk loci were shared with multiple traits within the neurodegenerative spectrum but with distinct enrichment patterns across brain regions and cell types. Of the environmental and lifestyle risk factors obtained from the literature, Mendelian randomization analyses indicated a causal role for high cholesterol levels. The combination of all ALS-associated signals reveals a role for perturbations in vesicle-mediated transport and autophagy and provides evidence for cell-autonomous disease initiation in glutamatergic neurons

Genome-wide Analyses Identify KIF5A as a Novel ALS Gene

To identify novel genes associated with ALS, we undertook two lines of investigation. We carried out a genome-wide association study comparing 20,806 ALS cases and 59,804 controls. Independently, we performed a rare variant burden analysis comparing 1,138 index familial ALS cases and 19,494 controls. Through both approaches, we identified kinesin family member 5A (KIF5A) as a novel gene associated with ALS. Interestingly, mutations predominantly in the N-terminal motor domain of KIF5A are causative for two neurodegenerative diseases: hereditary spastic paraplegia (SPG10) and Charcot-Marie-Tooth type 2 (CMT2). In contrast, ALS-associated mutations are primarily located at the C-terminal cargo-binding tail domain and patients harboring loss-of-function mutations displayed an extended survival relative to typical ALS cases. Taken together, these results broaden the phenotype spectrum resulting from mutations in KIF5A and strengthen the role of cytoskeletal defects in the pathogenesis of ALS.Peer reviewe

Psychosocial impact of undergoing prostate cancer screening for men with BRCA1 or BRCA2 mutations.

OBJECTIVES: To report the baseline results of a longitudinal psychosocial study that forms part of the IMPACT study, a multi-national investigation of targeted prostate cancer (PCa) screening among men with a known pathogenic germline mutation in the BRCA1 or BRCA2 genes. PARTICPANTS AND METHODS: Men enrolled in the IMPACT study were invited to complete a questionnaire at collaborating sites prior to each annual screening visit. The questionnaire included sociodemographic characteristics and the following measures: the Hospital Anxiety and Depression Scale (HADS), Impact of Event Scale (IES), 36-item short-form health survey (SF-36), Memorial Anxiety Scale for Prostate Cancer, Cancer Worry Scale-Revised, risk perception and knowledge. The results of the baseline questionnaire are presented. RESULTS: A total of 432 men completed questionnaires: 98 and 160 had mutations in BRCA1 and BRCA2 genes, respectively, and 174 were controls (familial mutation negative). Participants' perception of PCa risk was influenced by genetic status. Knowledge levels were high and unrelated to genetic status. Mean scores for the HADS and SF-36 were within reported general population norms and mean IES scores were within normal range. IES mean intrusion and avoidance scores were significantly higher in BRCA1/BRCA2 carriers than in controls and were higher in men with increased PCa risk perception. At the multivariate level, risk perception contributed more significantly to variance in IES scores than genetic status. CONCLUSION: This is the first study to report the psychosocial profile of men with BRCA1/BRCA2 mutations undergoing PCa screening. No clinically concerning levels of general or cancer-specific distress or poor quality of life were detected in the cohort as a whole. A small subset of participants reported higher levels of distress, suggesting the need for healthcare professionals offering PCa screening to identify these risk factors and offer additional information and support to men seeking PCa screening

Common and rare variant association analyses in amyotrophic lateral sclerosis identify 15 risk loci with distinct genetic architectures and neuron-specific biology

Amyotrophic lateral sclerosis (ALS) is a fatal neurodegenerative disease with a lifetime risk of one in 350 people and an unmet need for disease-modifying therapies. We conducted a cross-ancestry genome-wide association study (GWAS) including 29,612 patients with ALS and 122,656 controls, which identified 15 risk loci. When combined with 8,953 individuals with whole-genome sequencing (6,538 patients, 2,415 controls) and a large cortex-derived expression quantitative trait locus (eQTL) dataset (MetaBrain), analyses revealed locus-specific genetic architectures in which we prioritized genes either through rare variants, short tandem repeats or regulatory effects. ALS-associated risk loci were shared with multiple traits within the neurodegenerative spectrum but with distinct enrichment patterns across brain regions and cell types. Of the environmental and lifestyle risk factors obtained from the literature, Mendelian randomization analyses indicated a causal role for high cholesterol levels. The combination of all ALS-associated signals reveals a role for perturbations in vesicle-mediated transport and autophagy and provides evidence for cell-autonomous disease initiation in glutamatergic neurons.peer-reviewe