Teun de Boer, associate professor at the UMC Utrecht, is conducting research into the rapid assessment of gene mutations in the heart. In collaboration with two companies, he aims to predict whether a newly discovered gene mutation is harmful—and determine the best medication for a specific patient. The required budget of €980,000 is provided by the Open PPS program of the Dutch Heart Foundation, and by the private consortium partners Nanion Technologies and Elements.
Teun de Boer
Electrical impulses are essential for controlling the heart. These impulses are generated through the presence of proteins in the heart muscle cells that allow electrical charges to enter or leave the cell: the ion channels. Mutations in the genes for these ion channels can disrupt these electrical rhythms and lead to cardiac arrest. Teun de Boer and researchers at ExBDT want to predict whether a newly discovered mutation is serious and, if so, what the optimal medication might be for a specific patient.
The current approach to learning more about a mutation requires a year of research in the lab. That is why De Boer, in collaboration with partners Nanion and Elements, developed the revolutionary Excitable Biological-Digital Twin (ExBDT) technique in an earlier project.
This is a faster method that also immediately tests which drug works best for the mutation. By allowing the mutated ion channel to participate in a simulation of the electrical impulse of a heart muscle cell, it is immediately apparent whether the impulse is disrupted by the mutation or not.
In this project, De Boer wants to test the equipment in practice and prove that the new method has good predictive value for patients. Because the ExBDT method is based on an automatic system with a very high throughput speed, this approach is expected to bring the use of biological-digital twins in clinical diagnostics within reach, decreasing the time needed to determine if a mutation is dangerous or not, and doing so for more patients.
The Dutch Heart Foundation, the Dutch CardioVascular Alliance (DCVA), and the Netherlands Heart Institute (NL-HI) are jointly implementing the PPP program focused on cardiovascular disease. Through this program, they encourage innovative, translational, and multidisciplinary research in which knowledge institutions and private partners collaborate. Nanion Technologies is a German SME that specializes in equipment for automated electrophysiology. Elements Srl is an Italian SME that specializes in advanced electronics for electrophysiological experiments.
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