AI Tool Cuts Rare Disease Diagnosis From Years to Days

For families living with rare diseases, the search for answers often stretches across a decade of uncertainty, repeated tests, and no clear path forward. A breakthrough AI tool from Hebrew University of Jerusalem is changing that story, turning years of waiting into days of clarity.

EvORanker analyzes how genes have evolved across more than 1,000 species to uncover which genetic mutations are causing a patient's symptoms. Unlike existing tools that rely only on known medical connections, this algorithm detects hidden relationships between genes that science has never linked to disease before.

In clinical testing, the results were remarkable. The AI identified the correct disease-causing gene as the top candidate in nearly 70% of cases and placed it within the top five options in 95% of cases, outperforming every existing diagnostic tool.

Behind these numbers are real children getting real answers. One child with a complex neurodevelopmental disorder had undergone extensive testing without results. Using EvORanker, researchers identified a previously unknown gene as the cause, finally opening the door to understanding and potentially treating the condition.

In another case, the algorithm revealed the genetic basis of a severe disorder affecting multiple organs. The discovery gave the family long-awaited answers and pointed doctors toward possible treatment strategies.

"There are thousands of cases like that around the world that fall through the cracks of current medicine," said Professor Yuval Tabach, who led the research with Dr. Christina Canavati. Their work builds on earlier discoveries with Nobel Prize laureate Professor Gary Ruvkun.

The Ripple Effect

The impact reaches beyond diagnosis. By identifying disease genes faster, EvORanker also helps researchers spot existing drugs that could be repurposed for treatment, a shortcut that could save years of development time and bring help to patients much sooner.

Rare diseases affect up to 5% of people worldwide, and in Israel, that number reaches 8% due to genetic factors in certain communities. For these families, faster diagnosis means renewed hope for treatment and an end to the exhausting uncertainty.

The team is already expanding the technology to cancer research, using it to understand why some tumors unexpectedly regress. Those insights could lead to new treatments for stage 4 cancer patients.

EvORanker is now available as a free tool for researchers and clinicians worldwide, with new clinical applications emerging. For families still waiting for answers after years of searching, this breakthrough transforms the diagnostic journey from an odyssey into a sprint.