In the MOOD for Citizen Psych-Science

People make funny, frustrating and fatal errors on a daily basis. People can also create and apply strategies to avoid and mitigate error – this is called cognitive resilience. Researchers at UCLIC started the Errordiary project in 2009 as a way of raising awareness of human error research. Errordiary (www.errordiary.org) is an online public repository of the errors people make and the cognitive resilience strategies that they use. People contribute to it by using the #errordiary #rsdiary hashtags through Twitter. Over 130 people have contributed so far. The project has allowed researchers to gain a better insight into the resilience strategies that people use (Furniss et al., 2012). It has also been used as a real-life data set for teaching students about the psychology of human error (Wiseman, 2012). During August 2013 we interviewed 8 Errordiary contributors (5 female, 3 male) to find out more about their motivations for taking part. Most of our participants described their contributions as “occasional”, where Errordiary contributions varied from once a week, once a month, to once every 6 months. As one participant describes, “I go through a period of not contributing for weeks and then remembering it exists.” One reason for this is that contributions are event-driven. People cannot contribute whenever they wish - it has to be once they’ve committed an error or used a resilience strategy. Some participants described forgetting to contribute. Those that were regular twitter users were more likely to remember. As one participant describes, “I was already sharing errors on Twitter, now it’s just adding a hashtag.” The content of the error also had an impact on contributions. Sometimes participants did not tweet an error because they thought others might view their contribution as “mundane” or “not funny.” Contributions are visible to a person’s Twitter network, which means they are visible to a volunteer’s followers that may not know about the project. This makes contributing to Errordiary quite different to most other citizen science projects, where people contribute within the “safety” of being among like-minded others who share their interests. A couple of participants even described how they had set up a separate Twitter account just for the purpose of contributing to Errordiary. This highlights an important issue in using Twitter for data collection, as volunteers make a trade-off between convenience and protecting their privacy. These findings also highlight some of the ways in which a citizen psych-science project differs from a typical citizen science project. In citizen science usually volunteers collect or analyse data related to their environment (Haklay, 2013). However in Errordiary, researchers are asking volunteers to contribute their experiences of error. This means that volunteers are helping to collaborate in research, but at the same time they are the participants of the research. We suggest that this makes contributing to Errordiary more personal, and perhaps more sensitive, compared to other projects. The risks associated with sharing errors (e.g. negative perceptions from others, being viewed as incompetent) may counteract a person’s general good will to help researchers. Overall our study reveals several interesting insights concerning the spectrum of citizen science, and pros and cons in using Twitter for data collection. The Errordiary project is currently changing from being an online archive of error to a hub to engage and learn about error. This includes a ‘Discovery Zone’, allowing volunteers to explore research, media and games related to errors. It is now also possible for volunteers to login and contribute via the website – so the project is no longer restricted to Twitter users only. We plan to explore how these changes impact volunteers’ experiences in future research. References: Furniss, D., Back, J. and Blandford, A. (2012). Cognitive resilience: Can we use Twitter to make strategies more tangible? Proceedings of ECCE 2012, 96-99. Haklay, M. (2013). Citizen science and volunteered geographic information: Overview and typology of participation. In D. Sui et al. (Eds.) Crowdsourcing Geographic Knowledge: VGI in Theory and Practice, pp.105-122. Springer Netherlands. Wiseman, S. (2012). Errordiary: Support for teaching human error. ‘A contextualized curriculum for HCI’ workshop at CHI 2012

Designing Better Prescription Charts: Why we can’t just ask the nurses

Prescription charts are not designed with the task of programing medical devices in mind. This is surprising because we know that charts need to be consulted for programing values. This paper summarizes what we know about chart design, and then reflects on what we do not know. In order to design charts that facilitate programing, we need a better understanding of how they are used in hospitals. We cannot only ask nurses about how they use them since they may omit information about context and clinical practice. We discuss approaches that we plan to use to obtain the required understanding

Exploring Citizen Psych-Science and the Motivations of Errordiary Volunteers

Although virtual citizen science projects have the potential to engage large networks of people in science research, seeding and maintaining such networks can be difficult. A feature of successful projects is that they have well-motivated volunteers. What makes volunteers motivated rather than apathetic? In this paper we focus on projects that contribute to psychology research, which we term ‘citizen psych-science’. This differs from typical citizen science because volunteers are asked to contribute themselves as data. We describe research studies that we conducted with Errordiary — a citizen psych-science project where volunteers tweet about their everyday experiences of human error. These studies were: (1) an interview study, to explore the motivations of eight Errordiary volunteers; and (2) three focus groups, to explore the potential of attracting new communities to Errordiary. We found that the personal nature of the data can influence participation in positive and negative ways. We suggest several factors that scientists need to consider when encouraging citizen psych-science volunteers to contribute their personal experiences towards research

MOODs: Building massive open online diaries for researchers, teachers and contributors

Internet-based research conducted in partnership with paid crowdworkers and volunteer citizen scientists is an increasingly common method for collecting data from large, diverse populations. We wanted to leverage web-based citizen science to gain insights into phenomena that are part of people’s everyday lives. To do this, we developed the concept of a Massive Open Online Diary (MOOD). A MOOD is a tool for capturing, storing and presenting short updates from multiple contributors on a particular topic. These updates are aggregated into public corpora that can be viewed, analysed and shared. MOODs offer a novel method for crowdsourcing diary-like data in a way that provides value for researchers, teachers and contributors. MOODs also come with unique community-building and ethical challenges. We describe the benefits and challenges of MOODs in relation to Errordiary.org, a MOOD we created to aid our exploration of human error

Isolated brachydactyly type E caused by a HOXD13 nonsense mutation: a case report

<p>Abstract</p> <p>Background</p> <p>Brachydactyly type E (BDE; MIM#113300) is characterized by shortening of the metacarpal, metatarsal, and often phalangeal bones, and predominantly affects postaxial ray(s) of the limb. BDE may occur as an isolated trait or as part of a syndrome. Isolated BDE is rare and in the majority of cases the molecular pathogenesis has so far not been resolved. Originally, the molecular cause of isolated BDE has been unravelled in 2 families and shown to result from heterozygous missense mutations in the homeodomain of the <it>HOXD13 </it>gene. Since the initial manuscript, one further <it>HOXD13 </it>mutation has been reported only in a single family manifesting isolated BDE.</p> <p>Case Presentation</p> <p>In this paper, we report on a Polish family exhibiting isolated BDE caused by a novel nonsense heterozygous <it>HOXD13 </it>mutation. We investigated a Polish female proband and her father, both affected by isolated BDE, in whom we identified a nonsense heterozygous mutation c.820C > T(p.R274X) in the <it>HOXD13 </it>gene. So far, only two missense <it>HOXD13 </it>substitutions (p.S308C and p.I314L), localized within the homeodomain of the HOXD13 transcription factor, as well as a single nonsense mutation (p.E181X) were associated with BDE. Both missense changes were supposed to alter DNA binding affinity of the protein.</p> <p>Conclusion</p> <p>The variant p.R274X identified in our proband is the fourth <it>HOXD13 </it>mutation, and the second truncating (nonsense) mutation, reported to result in typical isolated BDE. We refer our clinical and molecular findings to the previously described <it>HOXD13 </it>associated phenotypes and mutations.</p

Rare Coding Variants in RCN3 Are Associated with Blood Pressure

BACKGROUND: While large genome-wide association studies have identified nearly one thousand loci associated with variation in blood pressure, rare variant identification is still a challenge. In family-based cohorts, genome-wide linkage scans have been successful in identifying rare genetic variants for blood pressure. This study aims to identify low frequency and rare genetic variants within previously reported linkage regions on chromosomes 1 and 19 in African American families from the Trans-Omics for Precision Medicine (TOPMed) program. Genetic association analyses weighted by linkage evidence were completed with whole genome sequencing data within and across TOPMed ancestral groups consisting of 60,388 individuals of European, African, East Asian, Hispanic, and Samoan ancestries. RESULTS: Associations of low frequency and rare variants in RCN3 and multiple other genes were observed for blood pressure traits in TOPMed samples. The association of low frequency and rare coding variants in RCN3 was further replicated in UK Biobank samples (N = 403,522), and reached genome-wide significance for diastolic blood pressure (p = 2.01 × 10− 7). CONCLUSIONS: Low frequency and rare variants in RCN3 contributes blood pressure variation. This study demonstrates that focusing association analyses in linkage regions greatly reduces multiple-testing burden and improves power to identify novel rare variants associated with blood pressure traits

Combined dark matter searches towards dwarf spheroidal galaxies with Fermi-LAT, HAWC, H.E.S.S., MAGIC, and VERITAS

Cosmological and astrophysical observations suggest that 85% of the total matter of the Universe is made of Dark Matter (DM). However, its nature remains one of the most challenging and fundamental open questions of particle physics. Assuming particle DM, this exotic form of matter cannot consist of Standard Model (SM) particles. Many models have been developed to attempt unraveling the nature of DM such as Weakly Interacting Massive Particles (WIMPs), the most favored particle candidates. WIMP annihilations and decay could produce SM particles which in turn hadronize and decay to give SM secondaries such as high energy \u1d6fe rays. In the framework of indirect DM search, observations of promising targets are used to search for signatures of DM annihilation. Among these, the dwarf spheroidal galaxies (dSphs) are commonly favored owing to their expected high DM content and negligible astrophysical background. In this work, we present the very first combination of 20 dSph observations, performed by the Fermi-LAT, HAWC, H.E.S.S., MAGIC, and VERITAS collaborations in order to maximize the sensitivity of DM searches and improve the current results. We use a joint maximum likelihood approach combining each experiment’s individual analysis to derive more constraining upper limits on the WIMP DM self-annihilation cross-section as a function of DM particle mass. We present new DM constraints over the widest mass range ever reported, extending from 5 GeV to 100 TeV thanks to the combination of these five different \u1d6fe-ray instruments

Genetic mechanisms of critical illness in COVID-19.

Host-mediated lung inflammation is present1, and drives mortality2, in the critical illness caused by coronavirus disease 2019 (COVID-19). Host genetic variants associated with critical illness may identify mechanistic targets for therapeutic development3. Here we report the results of the GenOMICC (Genetics Of Mortality In Critical Care) genome-wide association study in 2,244 critically ill patients with COVID-19 from 208 UK intensive care units. We have identified and replicated the following new genome-wide significant associations: on chromosome 12q24.13 (rs10735079, P = 1.65 × 10-8) in a gene cluster that encodes antiviral restriction enzyme activators (OAS1, OAS2 and OAS3); on chromosome 19p13.2 (rs74956615, P = 2.3 × 10-8) near the gene that encodes tyrosine kinase 2 (TYK2); on chromosome 19p13.3 (rs2109069, P = 3.98 ×  10-12) within the gene that encodes dipeptidyl peptidase 9 (DPP9); and on chromosome 21q22.1 (rs2236757, P = 4.99 × 10-8) in the interferon receptor gene IFNAR2. We identified potential targets for repurposing of licensed medications: using Mendelian randomization, we found evidence that low expression of IFNAR2, or high expression of TYK2, are associated with life-threatening disease; and transcriptome-wide association in lung tissue revealed that high expression of the monocyte-macrophage chemotactic receptor CCR2 is associated with severe COVID-19. Our results identify robust genetic signals relating to key host antiviral defence mechanisms and mediators of inflammatory organ damage in COVID-19. Both mechanisms may be amenable to targeted treatment with existing drugs. However, large-scale randomized clinical trials will be essential before any change to clinical practice