AIMC Topic: Rare Diseases

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Navigating the uncommon: challenges in applying evidence-based medicine to rare diseases and the prospects of artificial intelligence solutions.

Medicine, health care, and philosophy May 9, 2024
The study of rare diseases has long been an area of challenge for medical researchers, with agonizingly slow movement towards improved understanding of pathophysiology and treatments compared with more common illnesses. The push towards evidence-base...
Humans Evidence-Based Medicine Artificial Intelligence Rare Diseases Algorithms Research Design
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A novel multi-task machine learning classifier for rare disease patterning using cardiac strain imaging data.

Scientific reports May 9, 2024
To provide accurate predictions, current machine learning-based solutions require large, manually labeled training datasets. We implement persistent homology (PH), a topological tool for studying the pattern of data, to analyze echocardiography-based...
Humans Female Aged Machine Learning Retrospective Studies Cardiomyopathy, Restrictive Pericarditis, Constrictive Middle Aged Heart Ventricles Heart Failure Rare Diseases Adult Male Echocardiography
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Innovations in Medicine: Exploring ChatGPT's Impact on Rare Disorder Management.

Genes Mar 28, 2024
Artificial intelligence (AI) is rapidly transforming the field of medicine, announcing a new era of innovation and efficiency. Among AI programs designed for general use, ChatGPT holds a prominent position, using an innovative language model develope...
Rare Diseases Precision Medicine Deep Learning Humans Artificial Intelligence
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Potential of Artificial Intelligence to Accelerate Drug Development for Rare Diseases.

Pharmaceutical medicine Feb 5, 2024
The growth in breadth and depth of artificial intelligence (AI) applications has been fast, running hand in hand with the increasing amount of digital data available. Here, we comment on the application of AI in the field of drug development, with a ...
Drug Development Rare Diseases Artificial Intelligence Drug Discovery Humans
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[Short paths to diagnosis with artificial intelligence: systematic literature review on diagnostic decision support systems].

Schmerz (Berlin, Germany) Jan 2, 2024
BACKGROUND: Rare diseases are often recognized late. Their diagnosis is particularly challenging due to the diversity, complexity and heterogeneity of clinical symptoms. Computer-aided diagnostic aids, often referred to as diagnostic decision support...
Humans Artificial Intelligence Decision Support Systems, Clinical Rare Diseases
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Assessing resolvability, parsability, and consistency of RDF resources: a use case in rare diseases.

Journal of biomedical semantics Dec 5, 2023
INTRODUCTION: Healthcare data and the knowledge gleaned from it play a key role in improving the health of current and future patients. These knowledge sources are regularly represented as 'linked' resources based on the Resource Description Framewor...
Knowledge Bases Rare Diseases Humans
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The Medical Action Ontology: A tool for annotating and analyzing treatments and clinical management of human disease.

Med (New York, N.Y.) Nov 13, 2023
BACKGROUND: Navigating the clinical literature to determine the optimal clinical management for rare diseases presents significant challenges. We introduce the Medical Action Ontology (MAxO), an ontology specifically designed to organize medical proc...
Humans Computer Simulation Rare Diseases Biological Ontologies Software
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[Faster diagnosis of rare diseases with artificial intelligence-A precept of ethics, economy and quality of life].

Innere Medizin (Heidelberg, Germany) Oct 20, 2023
BACKGROUND: Approximately 300 million people worldwide suffer from a rare disease. An optimal treatment requires a successful diagnosis. This takes a particularly long time, especially for rare diseases. Digital diagnosis support systems could be imp...
Income Artificial Intelligence Rare Diseases Humans Quality of Life Trust
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Artificial intelligence in rare disease diagnosis and treatment.

Clinical and translational science Aug 30, 2023
Artificial intelligence (AI) utilization in health care has grown over the past few years. It also has demonstrated potential in improving the efficiency of diagnosis and treatment. Some types of AI, such as machine learning, allow for the efficient ...
Delivery of Health Care Artificial Intelligence Humans Precision Medicine Rare Diseases Machine Learning
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Associating biological context with protein-protein interactions through text mining at PubMed scale.

Journal of biomedical informatics Aug 10, 2023
Inferring knowledge from known relationships between drugs, proteins, genes, and diseases has great potential for clinical impact, such as predicting which existing drugs could be repurposed to treat rare diseases. Incorporating key biological contex...
Knowledge Bases Data Mining PubMed Rare Diseases Humans
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