The Netherlands is using 3D analysis to detect rare hereditary diseases

04 December 2020

It is hoped that diagnosing rare diseases will be made easier with new technology developed by an ERDF-funded project in the Dutch province of Gelderland. Using a combination of artificial intelligence, smart computing power and genetics, ‘Diagnostics-in-3D’ will mainly focus on rare hereditary diseases that cause intellectual disabilities. There are roughly 7 000 known rare diseases which affect 8 % of the Dutch population. Although extensive work has been done, it is still only pos

There are roughly 7 000 known rare diseases which affect 8 % of the Dutch population. Although extensive work has been done, it is still only possible to identify the cause for half of the people suffering from a rare disease. Genetic differences might be behind certain rare diseases, but it is not easy to determine which differences cause disease as most differences have no impact.

Software has been developed that uses anonymous patient data and artificial intelligence to predict the effect of these genetic mutations. The Radboud University Medical Center is leading the project, with the regional companies Bio-Prodict and Vartion also participating. The consortium now want to automate and accelerate their new approach.

The collaboration should increase the number of diagnoses for rare diseases. Correct diagnosis is essential for the development of treatments and, in turn, may affect decisions about future pregnancies that could be impacted by hereditary diseases.

Source article on https://www.blikopnieuws.nl/ on 19/11/2020