ArticleIntractable & rare diseases research2024
The use of artificial intelligence in the treatment of rare diseases: A scoping review.
Article in Intractable & rare diseases research, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 17 papers.
What it found
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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.
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Who cites it
17 citing papers in PubMed.
- Review
- Systematic review of artificial intelligence and digital-automated tools for screening, diagnosis and characterisation of primary ciliary dyskinesia.ERJ open research · 2026Article
- Capsule-enhanced hierarchical vision transformers for rare disease classification from medical images.Scientific reports · 2026Article
- Synonym Augmentation for Rare Disease Identification in Unstructured Data.medRxiv : the preprint server for health sciences · 2026Article
- Integrated network pharmacology, molecular docking, and experimental validation reveal the antifungal and anti-inflammatory mechanisms of Camellia oleifera seed extracts against oral thrush.Scientific reports · 2026Article
- Precision Medicine Bioethics and AI Ethics: The Case of Rare Diseases.Advances in experimental medicine and biology · 2026Review
- From Variant Interpretation to Biomarker Translation: Multi-omics Integration in Inherited Neuromuscular Diseases.Human mutation · 2026Review
- An Advanced Network Pharmacology Study Reveals the Multi-Pathway and Multi-Gene Regulatory Mechanism of Jinbai Heat-clearing Prescription in HPV-induced Cervical Cancer via Molecular Docking and Microarray Data Analysis.Current medicinal chemistry · 2026Article
- Privacy-by-Design with Federated Learning will drive future Rare Disease Research.Journal of neuromuscular diseases · 2026Review
- Natural products proposed for the management of Huntington's disease (HD): a comprehensive review.Naunyn-Schmiedeberg's archives of pharmacology · 2025Review
- Alpha-1 antitrypsin deficiency: genetics, clinical manifestations, AI prognostics, and advanced imaging in liver disease.Annals of medicine and surgery (2012) · 2025Review
- Foundation models for radiology-the position of the AI for Health Imaging (AI4HI) network.Insights into imaging · 2025Review
- Evidence of inequities experienced by the rare disease community with respect to receipt of a diagnosis and access to services: a scoping review of UK and international evidence.Orphanet journal of rare diseases · 2025Article
- The Role of Artificial Intelligence in Drug Discovery and Pharmaceutical Development: A Paradigm Shift in the History of Pharmaceutical Industries.AAPS PharmSciTech · 2025Review
- Applying artificial intelligence to rare diseases: a literature review highlighting lessons from Fabry disease.Orphanet journal of rare diseases · 2025Review
- Artificial Intelligence and Neuroscience: Transformative Synergies in Brain Research and Clinical Applications.Journal of clinical medicine · 2025Review
- The impact and future of artificial intelligence in medical genetics and molecular medicine: an ongoing revolution.Functional & integrative genomics · 2024Review
Corrections and comments
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Authors and funding
7 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
With the increasing application of artificial intelligence (AI) in medicine and healthcare, AI technologies have the potential to improve the diagnosis, treatment, and prognosis of rare diseases. Presently, existing research predominantly focuses on the areas of diagnosis and prognosis, with relatively fewer studies dedicated to the domain of treatment. The purpose of this review is to systematically analyze the existing literature on the application of AI in the treatment of rare diseases. We searched three databases for related studies, and established criteria for the selection of retrieved articles. From the 407 unique articles identified across the three databases, 13 articles from 8 countries were selected, which investigated 10 different rare diseases. The most frequently studied rare disease group was rare neurologic diseases (
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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 OpenQuestion graph.