Dx29:AI to diagnose rare diseases
Dx29 is an Artificial Intelligence-assisted platform built to facilitate the analysis and diagnosis of rare diseases.
To help medical professionals make diagnoses artificial intelligence goes through four phases: phenotyping, genotyping, phenotype refinement and final evaluation. It first processes reports from different sources to extract symptoms and code them. Then it launches an automatic learning algorithm to classify the thousands of patient’s mutations according to their relationship with the phenotypes.
Then the AI suggests new symptoms for the physician to contrast and finally the system generates a classified list of possible pathologies with an assigned score.
This project is not motivated by profit but by the desire to collaborate in the research of rare diseases and contribute to our developments in Artificial Intelligence.
“It will help to narrow down diagnoses when coping with difficult-to-diagnose illnesses``
Therefore, applying artificial intelligence in this field can help reduce all these figures and get better knowledge, accuracy, and diagnosis of this type of disease.