Intractable Rare Dis Res. 2024;13(1):12-22. (DOI: 10.5582/irdr.2023.01111)

The use of artificial intelligence in the treatment of rare diseases: A scoping review

He D, Wang R, Xu ZL, Wang JN, Song PP, Wang HY, Su JY

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 (n = 5/13, 38.46%). Among the four identified therapeutic domains, 7 articles (53.85%) focused on drug research, with 5 specifically focused on drug discovery (drug repurposing, the discovery of drug targets and small-molecule inhibitors), 1 on pre-clinical studies (drug interactions), and 1 on clinical studies (information strength assessment of clinical parameters). Across the selected 13 articles, we identified total 32 different algorithms, with random forest (RF) being the most commonly used (n = 4/32, 12.50%). The predominant purpose of AI in the treatment of rare diseases in these articles was to enhance the performance of analytical tasks (53.33%). The most common data source was database data (35.29%), with 5 of these studies being in the field of drug research, utilizing classic databases such as RCSB, PDB and NCBI. Additionally, 47.37% of the articles highlighted the existing challenge of data scarcity or small sample sizes.

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