From blow to DNA: citizen science advancing genetic research on southern right whales

Citizen science allows involving interested citizen in the entire research process in science. In the past, various citizen science projects have been performed in different research fields, especially in human medicine. We conducted a rapid scoping review to determine which citizen projects in human medicine already used software-based systems to engage citizens in the research process. Furthermore, we analysed which of the software-systems are publicly available, especially in the field of rare diseases, how citizens can participate using those tools and whether the usability was rated by the participants. To get insights for our project "SelEe (Seltene Erkrankungen bürgerwissenschaftlich erforschen)", which is a citizen science project in rare diseases funded by the Federal Ministry of Education and Research (BMBF), we aimed to identify projects in this research area. We searched PubMed for articles between 2011 and 2021 and performed a title- and abstract screening, as well as a full-text screening. Finally, 12 studies were identified in different research areas like public health, genetic research and infectious diseases. We could not identify any study directly associated with rare diseases. None of the studies investigated usability of those systems. Furthermore, five publicly available citizen science software-systems were identified. Three of them are general systems that allow creating, operating, managing citizen science projects and including citizens in the research process. In further investigations, we will check and compare these systems, if they are appropriate for use in our SelEe-project.

Drivers of extinction risks and shortfalls across terrestrial vertebrates in the Philippine global biodiversity hotspot.

The article shows the genesis of the scientific concept “citizen science”. Wie most relevant contexts and historical examples of the application of civil science in biological and agricultural industries are highlighted. The results and sociological analysis of the involvement of civil science are shown on a specific example of research carried out by order of the Russian Federal Scientific and Technical Program for the Development of Genetic Technologies in 2021-2022. Hie main question of the study is how effective civil science is for attracting and retaining interest in science (life sciences in general and genetic research in particular) among young students.

1. Introduction: Public Participation in Genetic Databases 2. Persons, Property and Gift: Exploring Languages of Tissue Donation to Biomedical Research 3. Blood Donation for Genetic Research: What Can we Learn From Donor's Narratives? 4. Levels and Styles of Participation in Genetic Databases: A Case Study of the North Cumbria Community Genetics Project 5. Informed Consent: The Contradictory Ethical Safeguards in Pharmacogenetics 6. Ambiguous Gifts: Public Anxiety, Informed Consent and Biobanks 7. Abandoning Informed Consent - The Case of Genetic Research in Population Collections 8. Children's Participation in Genetic Epidemiology: Consent and Control 9. 'Public Consent' or 'Scientific Citizenship'? What Counts as Public Participation in Population Based DNA Collections? 10. Tissue Collection and the Pharmaceutical Industry: Investigating Corporate Biobanks

Background: The ALS online database (ALSoD) is a freely available user-friendly online bioinformatics tool for ALS genetics research. ALSoD combines genotype, phenotype, and geographical information to allow clinicians and researchers to better understand specific mutations. To date most information has been harvested from the scientific literature, online databases, or submission from clinicians. PatientsLikeMe is a free online community for patients with ALS to track their disease progression, connect with other patients like them, and contribute their shared health data (including familial history and, in some cases, genetics) with researchers. Objective: To compare and contrast the genetic information from ALSoD and people with ALS contributing to PatientsLikeMe to allow direct searching of both datasets from the ALSoD interface. Methods: For the 25 genes in which variants have shown replicated association with ALS, the relative frequency of each variant was listed for each group. Variants reported in at least 4 individuals from each group were compared between groups using a chi-squared test of proportions. We also performed a descriptive analysis of populations from each database for age of onset, gender distribution, site of onset, and geographical location. Results: There were 661 variants reported from 1096 patients in the ALSoD database with complete age of onset, gender, site of onset and geographical information, and 5 variants from 97 patients reporting a positive familial ALS gene test in the PatientsLikeMe data. Four variants (SOD1, VAPB, ALS2, FUS) met the threshold for statistical analysis. Further, there were two variants of SOD1 in PatientsLikeMe affecting more than four patients each (A4V, D90A). Discussion: Our findings suggest that there may be value in engaging with families affected by ALS as potential reporters and “citizen scientists” in submitting data to ALSoD through channels such as PatientsLikeMe.

Increasing fishing pressure and uncertainty surrounding recreational fishing catch and effort data promoted the development of alternative methods for conducting fisheries research. A pilot investigation was undertaken to engage the Australian game fishing community and promote the non-lethal collection of tissue samples from the black marlin Istiompax indica, a valuable recreational-only species in Australian waters, for the purpose of future genetic research. Recruitment of recreational anglers was achieved by publicizing the project in magazines, local newspapers, social media, blogs, websites and direct communication workshops at game fishing tournaments. The Game Fishing Association of Australia and the Queensland Game Fishing Association were also engaged to advertise the project and recruit participants with a focus on those anglers already involved in the tag-and-release of marlin. Participants of the program took small tissue samples using non-lethal methods which were stored for future genetic analysis. The program resulted in 165 samples from 49 participants across the known distribution of I. indica within Australian waters which was a sufficient number to facilitate a downstream population genetic analysis. The project demonstrated the potential for the development of citizen science sampling programs to collect tissue samples using non-lethal methods in order to achieve targeted research objects in recreationally caught species.

This chapter starts with a description of an Icelandic case of a national collection of biosamples in the spring of 2014. A critique of the collection and a reaction to that critique is presented. In the wake of these descriptions, the case and its relation to population genetic research is discussed in light of two different views on scientific citizenship. The first view is Rose’s and Novas’ analysis of “biological citizenship” (Rose N, Novas C. Biological citizenship. In: Ong A, Collier SJ (eds) Global assemblages: technology, politics, and ethics as anthropological problems. Blackwell Publishing, Oxford, pp 439–463, 2004) and the other view draws on deliberative democratic theory (I have discussed these views in Arnason 2013 and I draw largely on that paper in my theoretical discussion here). It is shown how these two views disclose very different features of the collection of biosamples and the population genetic project in Iceland. It is argued that these two views provide complementary perspectives that are both necessary to throw light on the bioethical and biopolitical issues relevant for analyzing this case.

Feathers are increasingly collected as a nondestructive source of DNA for avian genetic research. Although feather samples are not optimal in some important ways than more robust blood or tissue samples, feather sampling requires less training for field workers, results in shorter handling times for the organism, generates no hazardous wastes, and requires simpler storage procedures. Along with these largely positive attributes comes a set of challenges, particularly the relatively low copy number of DNA present in feather samples. We compared the utility and reliability of feathers to the more traditional blood samples as sources of DNA for polymerase chain reaction (PCR)-based molecular sexing of Black-capped Chickadees (Poecile atricapilla). DNA from 102 individuals was extracted separately from both single rectrices and from blood samples, and the sex of each bird was then determined using standard PCR-based methods. We found complete agreement between sex determinations based on feather versus blood DNA extractions. Slight variations in lab protocols were necessary to obtain consistent results from these two DNA sources; and we briefly discuss other sources of error that could occur in feather-based molecular sexing studies. This controlled comparison of feather versus blood samples demonstrates that plucked rectrices provide a highly reliable source of DNA for molecular sexing of wild birds. SINOPSIS Se esta incrementando la modalidad de usar plumas como una fuente no destructiva de ADN para llevar a cabo investigacion genetica en aves. Aunque las muestras tomadas de plumas, en algunas instancias no son optimas que muestras mas robustas como sangre y tejido, el uso de estas no requiere adiestramiento especial, toman menos tiempo en la manipulacion del ave, no generan desperdicios peligrosos y requieren un almacenaje sencillo. Aunque hay atributos positivos en el uso de plumas, tambien existe el problema de obtener una muestra baja de ADN. Examinamos la utilidad y confiabilidad de muestras de plumas en comparacion con tecnicas mas tradicionales como obtencion de muestras de sangre como una fuente de ADN para el sexado de Poecile atricapilla utilizando PCR. A tales efectos se extrajo ADN, de rectrices, de 102 individuos y un numero similar de muestras de sangre para determinar el sexo usando PCR. Encontramos resultados similares con ambos metodos. Sin embargo, fueron necesarios pequenas variaciones en el protocolo de laboratorio para obtener resultados consistentes, de ambas fuentes de ADN. Discutimos algunas fuentes de error que pueden ocurrir cuando se utilizan plumas para la determinacion del sexo utilizando tecnicas moleculares. Este estudio demuestra que las rectrices son una fuente confiable para obtener buenas muestras de ADN y poder determinar el sexo en aves silvestres.

The development of genomics has dramatically expanded the scope of genetic research, and collections of genetic biosamples have proliferated in countries with active genomics research programs. In this essay, we consider a particular kind of collection, national biobanks. National biobanks are often presented by advocates as an economic "resource" that will be used by both basic researchers and academic biologists, as well as by pharmaceutical diagnostic and clinical genomics companies. Although national biobanks have been the subject of intense interest in recent social science literature, most prior work on this topic focuses either on bioethical issues related to biobanks, such as the question of informed consent, or on the possibilities for scientific citizenship that they make possible. We emphasize, by contrast, the economic aspect of biobanks, focusing specifically on the way in which national biobanks create biovalue. Our emphasis on the economic aspect of biobanks allows us to recognize the importance of what we call clinical labor-that is, the regularized, embodied work that members of the national population are expected to perform in their role as biobank participants-in the creation of biovalue through biobanks. Moreover, it allows us to understand how the technical way in which national biobanks link clinical labor to databases alters both medical and popular understandings of risk for common diseases and conditions.