ArticleFrontiers in artificial intelligence2022
The precision medicine process for treating rare disease using the artificial intelligence tool mediKanren.
Article in Frontiers in artificial intelligence, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 18 papers.
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Who cites it
18 citing papers in PubMed, 53 citations in OpenAlex.
- Artificial intelligence in drug research and development: a review of methods and applications in drug repurposing.Briefings in bioinformatics · 2026Review
- Integrating Artificial Intelligence with Global Genomic Resources: A Narrative Review of Implications for Precision Medicine.Journal of multidisciplinary healthcare · 2026Review
- How can academic researchers more effectively contribute to environmental toxicology and health efforts for regulatory decisions, policymakers, nonprofits, and communities?Journal of toxicology and environmental health. Part B, Critical reviews · 2026Review
- Natural products proposed for the management of Huntington's disease (HD): a comprehensive review.Naunyn-Schmiedeberg's archives of pharmacology · 2025Review
- AΙ-Driven Drug Repurposing: Applications and Challenges.Medicines (Basel, Switzerland) · 2025Review
- Pioneering a new field of computational pharmacophenomics to unlock the life-saving potential of existing medicines.The Lancet. Haematology · 2025Article
- The scienthetic method: from Aristotle to AI and the future of medicine.British journal of cancer · 2024Review
- The use of artificial intelligence in the treatment of rare diseases: A scoping review.Intractable & rare diseases research · 2024Article
- Functional genomics and small molecules in mitochondrial neurodevelopmental disorders.Neurotherapeutics : the journal of the American Society for Experimental NeuroTherapeutics · 2024Review
- Artificial intelligence in drug repurposing for rare diseases: a mini-review.Frontiers in medicine · 2024Review
- Variants inFrontiers in pediatrics · 2024Review
- Artificial intelligence for optimizing benefits and minimizing risks of pharmacological therapies: challenges and opportunities.Frontiers in drug safety and regulation · 2024Review
- Article
- Literature-based predictions of Mendelian disease therapies.American journal of human genetics · 2023Article
- The Impact of Artificial Intelligence on Optimizing Diagnosis and Treatment Plans for Rare Genetic Disorders.Cureus · 2023Review
- The Impact of Artificial Intelligence in the Odyssey of Rare Diseases.Biomedicines · 2023Review
- Learning channel-selective and aberrance repressed correlation filter with memory model for unmanned aerial vehicle object tracking.Frontiers in neuroscience · 2022Article
- The MED13L Foundation strategic research plan: a roadmap to the future.Therapeutic advances in rare diseaseArticle
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Authors and funding
15 authors at 3 institutions in 1 country.
Funding
Abstract
There are over 6,000 different rare diseases estimated to impact 300 million people worldwide. As genetic testing becomes more common practice in the clinical setting, the number of rare disease diagnoses will continue to increase, resulting in the need for novel treatment options. Identifying treatments for these disorders is challenging due to a limited understanding of disease mechanisms, small cohort sizes, interindividual symptom variability, and little commercial incentive to develop new treatments. A promising avenue for treatment is drug repurposing, where FDA-approved drugs are repositioned as novel treatments. However, linking disease mechanisms to drug action can be extraordinarily difficult and requires a depth of knowledge across multiple fields, which is complicated by the rapid pace of biomedical knowledge discovery. To address these challenges, The Hugh Kaul Precision Medicine Institute developed an artificial intelligence tool, mediKanren, that leverages the mechanistic insight of genetic disorders to identify therapeutic options. Using knowledge graphs, mediKanren enables an efficient way to link all relevant literature and databases. This tool has allowed for a scalable process that has been used to help over 500 rare disease families. Here, we provide a description of our process, the advantages of mediKanren, and its impact on rare disease patients.
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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.