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The aim of the research is to advance understanding of how environmental factors impact rare diseases.
An international team led by researchers at Trinity College Dublin’s Adapt centre have developed a new tool to effectively link diverse data on rare diseases and the environment.
Environmental factors, amplified by climate change, contribute significantly to the burden of diseases, disproportionately affecting the millions with rare diseases – research into which is often hindered by a lack of data.
The new framework developed at the Adapt Research Centre for AI-Driven Digital Content Technology is known as the Semantic Environmental and Rare Disease Data Integration Framework (SERDIF) and addresses challenges in rare disease research, such as data fragmentation and variations in data formats by allowing researchers to link health and environmental data through location and time information.
SERDIF, the open-source framework, increases the potential for better patient outcomes by allowing researchers to gain a more comprehensive understanding of rare diseases, the team said. This could lead to faster diagnoses and the development of new therapies.
“The use of this framework can lead to new insights for predicting and mitigating climate change impacts on public health that go beyond borders and disciplines, contributing to a better understanding of how the environment affects human health,” the researchers wrote in an article just published in Nature Digital Medicine.
The team was led by Dr Albert Navarro-Gallinad. “Our goal was to create a user-friendly framework that adheres to the FAIR principles of findability, accessibility, interoperability and reusability,” said Navarro-Gallinad. He added that making SERDIF open source is crucial for advancing the understanding of how environmental factors, which are amplified by the climate crisis, impact rare diseases.
“This collaboration between computer science and medicine,” said Prof Mark Little from Trinity’s School of Medicine, “demonstrates how interdisciplinary efforts can lead to significant breakthroughs.
“The SERDIF framework not only ensures patient privacy but also fosters global collaboration, potentially leading to more effective treatments and a better understanding of how these complex conditions are influenced by environmental factors.”
The framework was evaluated with researchers studying climate-related health hazards affecting vasculitis disease activity, but it can be applied to broader studies, Little said. For example, it also enabled epidemiologists to study environmental factors for a cohort of pregnant people in Italy.
Just last week, researchers at Trinity with European partners launched a new platform to share, search and analyse healthcare data, with the aim of accelerating healthcare innovation. SEARCH will generate FAIR synthetic healthcare data and enable large-scale data collaborations to support diagnostics, personalised treatment and predictive health outcomes, improving patient care while reducing privacy risks, the researchers said.
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