ReviewEuropean journal of human genetics : EJHG2021
Establishing a second-generation artificial intelligence-based system for improving diagnosis, treatment, and monitoring of patients with rare diseases.
Review in European journal of human genetics : EJHG, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 55 papers, 2 of them syntheses that pooled it.
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
55 citing papers in PubMed, 2 syntheses or guidelines pooled it.
- AI in Medical Questionnaires: Scoping ReviewJournal of medical Internet research · 2025Pooled it
- Opportunities and challenges with artificial intelligence in allergy and immunology: a bibliometric study.Frontiers in medicine · 2025Pooled it
- A novel therapeutic regimen based on the constrained-disorder principles may improve the response to dimethyl fumarate in multiple sclerosis: Findings from an exploratory feasibility open-label clinical trial.IBRO neuroscience reports · 2026Article
- AI-informed healthcare pedagogy: a review of the literature and application to pedagogical practice informed by case studies from dental education.British dental journal · 2026Review
- A feasibility open-label clinical trial utilizing second-generation artificial intelligence based on the constrained-disorder principle in patients with Parkinson's disease.IBRO neuroscience reports · 2026Article
- Artificial Intelligence in Rare Diseases: Workflow-Integrated Precision Kidney Care.Clinics and practice · 2026Review
- Biological Systems Depend on Communication Over Distances: A Review of the Fundamental Mechanisms, Associated challenges, and the Potential Effect of the Constrained Disorder Principle.Acta biotheoretica · 2026Review
- Privacy-by-Design with Federated Learning will drive future Rare Disease Research.Journal of neuromuscular diseases · 2026Review
- Variability in Exercise is Linked to Improved Age-related Dysfunctions, Suggesting a Potential Role for the Constrained-Disorder Principle-based Second-Generation Artificial Intelligence System.Current aging science · 2026Article
- The constrained disorder principle accounts for quantum effects in biological systems.Journal of medicine and life · 2026Review
- The Constrained Disorder Principle: A Paradigm Shift for Accurate Interactome Mapping and Information Analysis in Complex Biological Systems.Bioengineering (Basel, Switzerland) · 2025Review
- Data Augmentation and Synthetic Data Generation in Rare Disease Research: A Scoping Review.Medical sciences (Basel, Switzerland) · 2025Article
- The constrained disorder principle emphasizes the importance of variability boundaries for systems to function effectively.Journal of medicine and life · 2025Article
- Applying artificial intelligence to rare diseases: a literature review highlighting lessons from Fabry disease.Orphanet journal of rare diseases · 2025Review
- A constrained disorder principle-based second-generation artificial intelligence digital medical cannabis system: A real-world data analysis.Journal of public health research · 2025Article
- Review
- Review
- Inter-organ correlations in inflammation regulation: a novel biological paradigm in a murine model.Journal of medicine and life · 2025Article
- Understanding gut microbial diversity using systems based on the Constrained-Disorder Principle provides a novel approach to targeting gut microbiome therapies.Frontiers in microbiology · 2025Review
- Free Will as Defined by the Constrained Disorder Principle: a Restricted, Mandatory, Personalized, Regulated Process for Decision-Making.Integrative psychological & behavioral science · 2024Review
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
4 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Patients with rare diseases are a major challenge for healthcare systems. These patients face three major obstacles: late diagnosis and misdiagnosis, lack of proper response to therapies, and absence of valid monitoring tools. We reviewed the relevant literature on first-generation artificial intelligence (AI) algorithms which were designed to improve the management of chronic diseases. The shortage of big data resources and the inability to provide patients with clinical value limit the use of these AI platforms by patients and physicians. In the present study, we reviewed the relevant literature on the obstacles encountered in the management of patients with rare diseases. Examples of currently available AI platforms are presented. The use of second-generation AI-based systems that are patient-tailored is presented. The system provides a means for early diagnosis and a method for improving the response to therapies based on clinically meaningful outcome parameters. The system may offer a patient-tailored monitoring tool that is based on parameters that are relevant to patients and caregivers and provides a clinically meaningful tool for follow-up. The system can provide an inclusive solution for patients with rare diseases and ensures adherence based on clinical responses. It has the potential advantage of not being dependent on large datasets and is a dynamic system that adapts to ongoing changes in patients' disease and response to therapy.
Indexed as
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What Socratic holds
Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the Socratic graph.