A chance for patients in the diagnosis of rare diseases – Diagnostics and therapies


A group of rare disease experts with the support of artificial intelligence will support patients in faster diagnosis of rare diseases.

There is a new hope for people who, despite the efforts of their doctors, have been waiting for months or years for a diagnosis and treatment to begin. Now any patient with a suspected rare disease who is actively seeking a diagnosis can use the application on the website of the Saventic Foundation. Completing the form and providing medical data increases its chances of making a correct diagnosis. Using the web application is completely free of charge.

“The innovation consists in the use of artificial intelligence algorithms and the involvement of a panel of experts in the analysis of the patient’s case. The applied algorithms, on the basis of information provided by patients, are able to determine the risk of a rare disease from the catalog of diseases currently dealt with by the foundation. We plan to regularly expand the scope of activities with new units sickness “says Szymon Pitkowski, one of the founders of the foundation.

Through the website, you can access all available medical data, test results, hospital discharge records, etc. The information provided is then analyzed by artificial intelligence algorithms. Data from patients with identified risk of any rare disease is then sent to a council of experts. After the consultation, the foundation’s coordinator contacts the patients at high risk of a specific rare disease and provides information on the recommended center and specialist in order to conduct a full diagnosis.

“The foundation’s web application is a response to the needs of patients with disturbing symptoms or abnormal results who search for their cause, but still remain undiagnosed. At the present stage, the proposed solution may accelerate the diagnosis of metabolic diseases – the so-called storage diseases, but an expansion is planned in the near future. platforms for more disease entities “- says prof. dr hab. med. Grzegorz Basak.


Source: https://www.rp.pl by www.rp.pl.

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