The precision medicine process for treating rare disease using the artificial intelligence tool mediKanren.

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 ra

SUBMITTER: Foksinska A 

PROVIDER: S-EPMC9562701 | biostudies-literature | 2022

REPOSITORIES: biostudies-literature