A framework for human microbiome research

A variety of microbial communities and their genes (the microbiome) exist throughout the human body, with fundamental roles in human health and disease. The National Institutes of Health (NIH)-funded Human Microbiome Project Consortium has established a population-scale framework to develop metagenomic protocols, resulting in a broad range of quality-controlled resources and data including standardized methods for creating, processing and interpreting distinct types of high-throughput metagenomic data available to the scientific community. Here we present resources from a population of 242 healthy adults sampled at 15 or 18 body sites up to three times, which have generated 5,177 microbial taxonomic profiles from 16S ribosomal RNA genes and over 3.5 terabases of metagenomic sequence so far. In parallel, approximately 800 reference strains isolated from the human body have been sequenced. Collectively, these data represent the largest resource describing the abundance and variety of the human microbiome, while providing a framework for current and future studies

Signal Ahead: A Content Analysis of Message Sensation Values in Vehicular Safety PSAs

The effects of dangerous and risky driving habits have been a leading, albeit gradually decreasing, cause of death (National Center for Statistics and Analysis, 2019). Numerous attempts to curb these risky behaviors have been attempted, to some degree of success, yet the problem remains (National Conference of State Legislatures, 2020; National Highway Traffic Safety Administration, 2015). Research needs to identify programmatic changes to help assist in preventing incidents of impaired driving, distracted driving, and child car safety. These programs could take the form of audio public service announcements (PSAs). One issue with constructing these PSAs is that often the messages only elicit short-term changes because of the lack of an emotional trigger (Bummara & Choi, 2015). However, effective PSAs can be created to engage the listeners and convey enough emotion via message sensation value. Message sensation value is the degree to which formal and content audio-visual features of a televised message elicit sensory, affective, and arousal responses (Palmgreen et al., 1991, p. 219). The purpose of this novel analysis is to identify components of audio-only PSAs and how they elicit sensory, affective, and arousal responses (Palmgreen et al., 1991, p. 219). In order to research the construction of these messages, researchers conducted a content analysis of vehicular safety messages from the public service announcement database PSAcentral.com. By analyzing these vehicular safety PSAs, we will explore how audio messages on texting and driving, drunk driving, and child car safety use audio message sensation values to increase engagement and thus behavior (Hennessy et al., 2012). This research is part of a larger study investigating the use of audio-only public service announcement construction for both academics and practitioners

Endocannabinoid dysfunction in neurological disease: neuro-ocular DAGLA-related syndrome (NODRS)

The endocannabinoid system is a highly conserved and ubiquitous signalling pathway with broad-ranging effects. Despite critical pathway functions, gene variants have not previously been conclusively linked to human disease. We identified nine children from eight families with heterozygous, de novo truncating variants in the last exon of DAGLA with a neuro-ocular phenotype characterized by developmental delay, ataxia and complex oculomotor abnormality. All children displayed paroxysms of nystagmus or eye deviation accompanied by compensatory head posture and worsened incoordination most frequently after waking. RNA sequencing showed clear expression of the truncated transcript and no differences were found between mutant and wild-type DAGLA activity. Immunofluorescence staining of patient-derived fibroblasts and HEK cells expressing the mutant protein showed distinct perinuclear aggregation not detected in control samples. This report establishes truncating variants in the last DAGLA exon as the cause of a unique paediatric syndrome. Because enzymatic activity was preserved, the observed mislocalization of the truncated protein may account for the observed phenotype. Potential mechanisms include DAGLA haploinsufficiency at the plasma membrane or dominant negative effect. To our knowledge, this is the first report directly linking an endocannabinoid system component with human genetic disease and sets the stage for potential future therapeutic avenues