Ketotic hypoglycemia in patients with Down syndrome: an example of extreme citizen science in biomedicine
... It provides learning opportunities for citizen scientists, raises their awareness about disease and treatment, increases advocacy among them, promotes behavior change, fosters social interactions, strengthens connections between citizen scientists and health sciences researchers and professionals, and improves the living situation of volunteer patients [58,60]. To date, relatively few health-related projects have examined leveraging citizen scientists' power in the different stages of rare diseases research (for instance, see [61][62][63][64][65][66][67]). Overall, previous studies showed that the integration of the citizen science approach in rare diseases research frameworks is an effective strategy and can open up new opportunities and perspectives. ...
Background
The Pediatric Spinal Muscular Atrophy Registry Program of Iran (PSMAIR) was established as part of the global TREAT-NMD network, which collects data from spinal muscular atrophy (SMA) patients under 18 years of age in Iran. The registry employs a web-based data entry system to collect detailed longitudinal demographic, geographic, clinical, genetic, and treatment outcome data of Iranian children who suffer from SMA.
Results
From October 2021 to September 2022, 59 SMA patients were enrolled; 52.5% were female, 47.5% were male, and the average age was 4.98 ± 4.08 years. The majority of registered patients were diagnosed with SMA Type I (47%), followed by Type II (29%) and Type III (24%). Overall, about 19% of the registered patients died; all of them were Type I patients. In the registry, 44% of patients had been hospitalized previously. Usage rates for wheelchairs or other mobility assistive devices, occurrence of scoliosis, tube feeding, and mechanical ventilation among these patients were 15%, 15%, 19%, and 20%, respectively. The data reveal a gradient of severity across SMA types, with earlier symptom onset, lower CMAP amplitude, and lower ACTIVLIM scores associated with more severe SMA (type I), and increments observed moving towards milder forms (type III). The data reveal that symptom onset age, CMAP amplitude, and ACTIVLIM scores progressively increase from SMA type I to SMA type III. The CHOP-INTEND questionnaire's average score was notably higher in children with SMA type II compared to those with type I, while the HFMSE questionnaire scores were notably increased in type III compared to type II patients. A significant correlation between the SMN2 copy number and the SMA phenotype was observed in the population. The geographic distribution of the enrolled patients covers 15 and 18 (out of the 31) provinces of Iran for place of birth and current place of residence, respectively. For patients residing outside Tehran city (where the registry’s referral center is located), the average distance to the registry’s referral center was roughly 463 km.
Conclusions
The PSMAIR offers an important step toward understanding the characteristics of Iranian pediatric SMA patients. The outcome of PSMAIR facilitates data-driven planning and decision-making for Iranian pediatric SMA patients and can help in the advancement of SMA care standards, management, and therapies.
Abstract Background For patients with rare diseases (RD), misdiagnosis (or erroneous diagnosis) is one of the key issues that hinder RD patients’ accessibility to timely treatment. Yet, little is known about the main factors that are associated with RD patients’ misdiagnosis. The objective of this study is to analyze data from a national survey among 2040 RD patients from China to explore the association between misdiagnosis and various factors, including patients’ demographics, socio-economic status, medical history, and their accessibility to RD information. Results Three binary logistic regression analyses were performed to assess the relationships between misdiagnosis and level of rarity of the RDs (mild, moderate, and severe), demographics, health insurance levels, and accessibility to disease-related information by using the total sample, and the adult and non-adult sub-samples. We found that accessibility to RD information is the most critical factor influencing the patients’ chances of being misdiagnosed (odds ratio [OR] = 4.459, p
The Orphan Drug Act (ODA) [1], first enacted in the United States in 1983, was set up to encourage the development of drugs for rare diseases. At that time, drug therapies for such diseases were rarely developed. Three decades later, a growing proportion of industry research and development (R&D) [2] and regulatory drug approvals [3] target diseases affecting fewer than 200,000 persons in the United States, the prevalence-based threshold of rare disease under the ODA.
Citizen science enlists the public in collecting large quantities of data across an array of habitats and locations over long spans of time. Citizen science projects have been remarkably successful in advancing scientific knowledge, and contributions from citizen scientists now provide a vast quantity of data about species occurrence and distribution around the world. Most citizen science projects also strive to help participants learn about the organisms they are observing and to experience the process by which scientific investigations are conducted. Developing and implementing public data-collection projects that yield both scientific and educational outcomes requires significant effort. This article describes the model for building and operating citizen science projects that has evolved at the Cornell Lab of Ornithology over the past two decades. We hope that our model will inform the fields of biodiversity monitoring, biological research, and science education while providing a window into the culture of citizen science.
Patients with rare diseases, and the scientists who study those diseases, were long inhibited by geographic sparsity. But the social-media age has made it much easier for them to band together to leverage their experience and push forward change.
How to incorporate patient and public perspectives into the design and conduct of research
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Crowdsourcing Geographic Knowledge: Volunteered Geographic Information (VGI) in Theory and Practice
- M Haklay
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Parliament, the European Economic and Social Committee and the Committee of the Regions -Towards a Shared Environmental Information System (SEIS). Brussels: ENV. (2008) http://eurlex.europa.eu/legal-content/EN/TXT/?uri=celex:52008DC0046.