Rare Diseases in the Educational Field: Knowledge and Perceptions of Spanish Teachers.
Ontology highlight
ABSTRACT: Background
Education plays a fundamental role in everyone's wellbeing. That means it is essential to provide quality inclusive activities to ensure equity and equality of opportunity in order to shape a cohesive, democratic, healthy society.Methods
In this study we focus on how inclusive educational practice addresses students with rare diseases, looking at teachers' knowledge and opinions in this regard. A questionnaire was administered to 574 teachers who taught in various stages of non-university education to determine their knowledge and opinions about different dimensions: conceptualization, legislation, intervention, and diagnosis.Results
The results suggested various ideas for improvement in pursuit of positive, real inclusion, such as the need to improve teachers' knowledge and understanding of these students' characteristics and potential, with widespread specific training being urgently needed.Conclusions
in summary, students' rights to education without discrimination is a basic premise of an educational system, leading to the need for a complete educational response that allows each student to develop as a person.
SUBMITTER: Garcia-Perales R
PROVIDER: S-EPMC9140519 | biostudies-literature | 2022 May
REPOSITORIES: biostudies-literature
Publications
Rare Diseases in the Educational Field: Knowledge and Perceptions of Spanish Teachers.
García-Perales Ramón R Palomares-Ruiz Ascensión A Ordóñez-García Lydia L García-Toledano Eduardo E
International journal of environmental research and public health 20220516 10
<h4>Background</h4>Education plays a fundamental role in everyone's wellbeing. That means it is essential to provide quality inclusive activities to ensure equity and equality of opportunity in order to shape a cohesive, democratic, healthy society.<h4>Methods</h4>In this study we focus on how inclusive educational practice addresses students with rare diseases, looking at teachers' knowledge and opinions in this regard. A questionnaire was administered to 574 teachers who taught in various stag ...[more]
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Project description:ObjectiveIdentifying sets of rare diseases with shared aspects of etiology and pathophysiology may enable drug repurposing. Toward that aim, we utilized an integrative knowledge graph to construct clusters of rare diseases.Materials and methodsData on 3242 rare diseases were extracted from the National Center for Advancing Translational Science Genetic and Rare Diseases Information center internal data resources. The rare disease data enriched with additional biomedical data, including gene and phenotype ontologies, biological pathway data, and small molecule-target activity data, to create a knowledge graph (KG). Node embeddings were trained and clustered. We validated the disease clusters through semantic similarity and feature enrichment analysis.ResultsThirty-seven disease clusters were created with a mean size of 87 diseases. We validate the clusters quantitatively via semantic similarity based on the Orphanet Rare Disease Ontology. In addition, the clusters were analyzed for enrichment of associated genes, revealing that the enriched genes within clusters are highly related.DiscussionWe demonstrate that node embeddings are an effective method for clustering diseases within a heterogenous KG. Semantically similar diseases and relevant enriched genes have been uncovered within the clusters. Connections between disease clusters and drugs are enumerated for follow-up efforts.ConclusionWe lay out a method for clustering rare diseases using graph node embeddings. We develop an easy-to-maintain pipeline that can be updated when new data on rare diseases emerges. The embeddings themselves can be paired with other representation learning methods for other data types, such as drugs, to address other predictive modeling problems.
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