JERUSALEM, March 29 (Xinhua) -- An international team of researchers has developed an artificial intelligence tool that can accelerate the search for the genetic causes of rare diseases, the Hebrew University of Jerusalem announced in a statement on Sunday.
For families of children with rare diseases, reaching a diagnosis can take years, often without answers.
The new AI tool, called EvORanker and detailed in the journal Genetics in Medicine, analyzes genes across evolution. By comparing patterns across more than 1,000 species, it can detect hidden links between genes and diseases that have been found before.
In tests, EvORanker identified the correct disease-causing gene as the top candidate in nearly 70 percent of cases and within the top five in 95 percent of cases, outperforming existing methods.
In one case, the tool helped identify a gene responsible for a child's complex disorder, offering hope for treatment. In another, it revealed the genetic basis of a multisystem disease, guiding potential therapies.
The new AI tool could also help repurpose existing drugs, shortening the path to treatment. While rare diseases are the immediate focus, the researchers are exploring its use in cancer research.
For families grappling with these rare diseases, the tool promises faster, more accurate answers to long-standing medical mysteries, researchers said. ■
