Jul. 14th, 2021
Rare diseases are characterized by high variability and clinical diversity. Due to the rare occurrence of these diseases, not all doctors are able to recognize them. Therefore, the diagnosis is difficult and often takes years. Moreover, if a rare disease reaches the stage of advanced clinical expression that enables a clear diagnosis, it may already be irreversible.
Early diagnosis of rare diseases is the goal of the newly established Saventic Foundation. The foundation works towards supporting faster diagnosis of patients with rare diseases, helping patients to reach the appropriate medical centers and specialists, and the development of rare diseases diagnosis technology. The foundation offers patients an online service in which, based on the submitted medical documentation, a medical consultation is made and patients are referred to the most appropriate, highly specialized medical centers dealing with a given disease.
The heart of the system are artificial intelligence algorithms developed by Saventic Health, which determine the risk of a given rare disease. Currently, algorithms can recognize storage diseases – Gaucher and Fabry disease. There next planned extentions to the scope of diagnostics include diseases like Pompe’s disease, Niemann-Pick, ATTR amyloidosis and AL amyloidosis. After a machine diagnosis, the data of patients are referred to a consilium of experts, which determines the best procedure in a given case. Using the system is free of charge for patients.
The foundation’s partners include: Saventic Health sp. z o.o., Takeda Pharmaceutical Company Limited, Stowarzyszenie Rodzin z Chorobą Fabry’ego (Association of Families with Fabry Disease) and Stowarzyszenie Rodzin z Chorobą Gauchera (Association of Families with Gaucher Disease).