P363 Patients create knowledge: patient science for research into rare diseases – a citizen science study in the field of cystic fibrosis

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.

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A Citizen-Science Study Documents Environmental Exposures and Asthma Prevalence in Two Communities

Journal of Environmental and Public Health ◽

10.1155/2016/1962901 ◽

2016 ◽

Vol 2016 ◽

pp. 1-8 ◽

Cited By ~ 3

Author(s):

Samantha Eiffert ◽

Yomi Noibi ◽

Stephen Vesper ◽

Jonathan Downs ◽

Florence Fulk ◽

...

Keyword(s):

Citizen Science ◽

Low Income ◽

Environmental Exposures ◽

Positive Association ◽

Dust Sample ◽

Asthma Prevalence ◽

Public Officials ◽

Science Study ◽

Logistic Regression Models ◽

Unit Increase

A citizen-science study was conducted in two low-income, flood-prone communities in Atlanta, Georgia, in order to document environmental exposures and the prevalence of occupant asthma. Teams consisting of a public-health graduate student and a resident from one of the two communities administered a questionnaire, inspected residences for mold growth, and collected a dust sample for quantifying mold contamination. The dust samples were analyzed for the 36 molds that make up the Environmental Relative Moldiness Index (ERMI). Most residents (76%) were renters. The median duration of residence was 2.5 years. Although only 12% of occupants reported a history of flooding, 46% reported at least one water leak. Homes with visible mold (35%) had significantly (P<0.05) higher mean ERMI values compared to homes without (14.0 versus 9.6). The prevalence of self-reported, current asthma among participants was 14%. In logistic regression models controlling for indoor smoking, among participants residing at their current residence for two years or less, a positive association was observed between asthma and the homes’ ERMI values (adjusted odds ratio per unit increase in ERMI = 1.12, 95% confidence intervals (CI): 1.01–1.25; two-tailedP=0.04). Documentation of the exposures and asthma prevalence has been presented to the communities and public officials. Community-based organizations have taken responsibility for planning and implementing activities in response to the study findings.

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High resolution stream water quality assessment in the Vancouver, British Columbia region: a citizen science study

The Science of The Total Environment ◽

10.1016/j.scitotenv.2017.02.195 ◽

2017 ◽

Vol 603-604 ◽

pp. 745-759 ◽

Cited By ~ 15

Author(s):

Scott M. Shupe

Keyword(s):

Water Quality ◽

British Columbia ◽

High Resolution ◽

Quality Assessment ◽

Citizen Science ◽

Stream Water ◽

Water Quality Assessment ◽

Stream Water Quality ◽

Science Study

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A salp bloom (Tunicata, Thaliacea) along the Apulian coast and in the Otranto Channel between March-May 2013

F1000Research ◽

10.12688/f1000research.2-181.v1 ◽

2013 ◽

Vol 2 ◽

pp. 181 ◽

Cited By ~ 11

Author(s):

Ferdinando Boero ◽

Genuario Belmonte ◽

Roberta Bracale ◽

Simonetta Fraschetti ◽

Stefano Piraino ◽

...

Keyword(s):

Citizen Science ◽

Science Study ◽

Adriatic Coast ◽

Dead Bodies ◽

The Dead ◽

The Waves

Between March-May 2013 a massive Salpa maxima bloom was recorded by a citizen science study along the Ionian and Adriatic coast of the Salento peninsula (Italy). Citizen records were substantiated with field inspections along the coast and during an oceanographic campaign in the Otranto Channel.Salps clogged nets, impairing fishing activities along the coast. Swimmers were scared by the gelatinous appearance of the salps, and thought they were jellyfish. At the end of the bloom the dead bodies of the colonies, that were up to 6-7 m long, were accumulated along the coast and stirred by the waves, forming foams along dozens of kilometers of coast. The bloom also occurred at the Tremiti Islands, north of the Gargano Peninsula. The possible impacts of such events on the functioning of pelagic systems are discussed.

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A role for artificial night-time lighting in long-term changes in populations of 100 widespread macro-moths in UK and Ireland: a citizen-science study

Journal of Insect Conservation ◽

10.1007/s10841-018-0052-1 ◽

2018 ◽

Vol 22 (2) ◽

pp. 189-196 ◽

Cited By ~ 22

Author(s):

John Fawcett Wilson ◽

David Baker ◽

Janet Cheney ◽

Mike Cook ◽

Martin Ellis ◽

...

Keyword(s):

Citizen Science ◽

Science Study ◽

Night Time ◽

Long Term Changes

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Personalization of therapies in rare diseases: a translational approach for the treatment of cystic fibrosis

Minerva Pediatrica ◽

10.23736/s0026-4946.19.05511-7 ◽

2019 ◽

Vol 71 (4) ◽

Cited By ~ 1

Author(s):

Valeria R. Villella ◽

Antonella Tosco ◽

Speranza Esposito ◽

Eleonora Ferrari ◽

Gianni Bona ◽

...

Keyword(s):

Cystic Fibrosis ◽

Rare Diseases ◽

Translational Approach

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Diagnostic delay of rare diseases in Europe and in Hungary

Orvosi Hetilap ◽

10.1556/oh.2012.29418 ◽

2012 ◽

Vol 153 (30) ◽

pp. 1185-1190 ◽

Cited By ~ 6

Author(s):

Anett Földvári ◽

Ildikó Szy ◽

János Sándor ◽

Gábor Pogány ◽

György Kosztolányi

Keyword(s):

Cystic Fibrosis ◽

Duchenne Muscular Dystrophy ◽

Muscular Dystrophy ◽

Tuberous Sclerosis ◽

Rare Diseases ◽

Diagnostic Delay ◽

Patient Organizations ◽

Qualitative Survey ◽

Centralized Care ◽

Patients Experience

The long diagnostic delay is a characteristic problem of rare disease patients. Aims: Diagnostic delay was studied in 14 countries by EurordisCare2 involving patient organizations. Methods: 252 Hungarian patients (cystic fibrosis; Duchenne muscular dystrophy; tuberous sclerosis, retinitis pigmentosa, and Williams’ syndrome) completed the questionnaires. Results: The median delay was longer in Hungary than in Europe (cystic fibrosis: 227 vs. 45 days; Duchenne muscular dystrophy: 467 vs. 360 days; tuberous sclerosis: 155 vs. 120 days). Patients’ experience was similar in Hungary and in Europe. The proportion of misdiagnosis was 30.8% in Hungary (Europe: 41%), 34.8% of patients got diagnosis outside of living place region (EU: 26%) and 19.9% of them found the personal expenses too high (EU: 10%). Delivery of the diagnosis was unnecessary according to 27.4% of Hungarian patients (EU: 35%). Conclusions: The qualitative survey demonstrated that the problems with the diagnosis of rare diseases are widespread, the identified areas require interventions, and it confirmed the importance of centralized care. Orv. Hetil., 2012, 153, 1185–1190.

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Novel Fibonacci and non-Fibonacci structure in the sunflower: results of a citizen science experiment

Royal Society Open Science ◽

10.1098/rsos.160091 ◽

2016 ◽

Vol 3 (5) ◽

pp. 160091 ◽

Cited By ~ 12

Author(s):

Jonathan Swinton ◽

Erinma Ochu ◽

Keyword(s):

Helianthus Annuus ◽

Citizen Science ◽

Fibonacci Numbers ◽

Fibonacci Number ◽

Reliable Data ◽

Science Study ◽

The Third ◽

Data Subset ◽

First Time

This citizen science study evaluates the occurrence of Fibonacci structure in the spirals of sunflower ( Helianthus annuus ) seedheads. This phenomenon has competing biomathematical explanations, and our core premise is that observation of both Fibonacci and non-Fibonacci structure is informative for challenging such models. We collected data on 657 sunflowers. In our most reliable data subset, we evaluated 768 clockwise or anticlockwise parastichy numbers of which 565 were Fibonacci numbers, and a further 67 had Fibonacci structure of a predefined type. We also found more complex Fibonacci structures not previously reported in sunflowers. This is the third, and largest, study in the literature, although the first with explicit and independently checkable inclusion and analysis criteria and fully accessible data. This study systematically reports for the first time, to the best of our knowledge, seedheads without Fibonacci structure. Some of these are approximately Fibonacci, and we found in particular that parastichy numbers equal to one less than a Fibonacci number were present significantly more often than those one more than a Fibonacci number. An unexpected further result of this study was the existence of quasi-regular heads, in which no parastichy number could be definitively assigned.

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