Artificial intelligence (AI) in rare diseases: Is the future brighter?

Sandra Brasil, Carlota Pascoal, Rita Francisco, Vanessa dos Reis Ferreira, Paula A. Videira, Gonçalo Valadão

Research output: Contribution to journalReview articlepeer-review

38 Citations (Scopus)
41 Downloads (Pure)


The amount of data collected and managed in (bio)medicine is ever-increasing. Thus, there is a need to rapidly and efficiently collect, analyze, and characterize all this information. Artificial intelligence (AI), with an emphasis on deep learning, holds great promise in this area and is already being successfully applied to basic research, diagnosis, drug discovery, and clinical trials. Rare diseases (RDs), which are severely underrepresented in basic and clinical research, can particularly benefit from AI technologies. Of the more than 7000 RDs described worldwide, only 5% have a treatment. The ability of AI technologies to integrate and analyze data from different sources (e.g., multi-omics, patient registries, and so on) can be used to overcome RDs’ challenges (e.g., low diagnostic rates, reduced number of patients, geographical dispersion, and so on). Ultimately, RDs’ AI-mediated knowledge could significantly boost therapy development. Presently, there are AI approaches being used in RDs and this review aims to collect and summarize these advances. A section dedicated to congenital disorders of glycosylation (CDG), a particular group of orphan RDs that can serve as a potential study model for other common diseases and RDs, has also been included.

Original languageEnglish
Article number978
Issue number12
Publication statusPublished - 1 Dec 2019


  • Artificial intelligence
  • Big data
  • Congenital disorders of glycosylation
  • Diagnosis
  • Drug repurposing
  • Machine learning
  • Personalized medicine
  • Rare diseases


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