Researchers from the Center for Human Genetics (CME) in Leuven have unveiled a revolutionary diagnostic method that combines genetic and epigenetic analysis in a single test. This innovation, supported by the computational power of the Flemish Supercomputer (VSC), has the potential to significantly expedite the diagnosis of rare diseases. UZ Leuven, to which the CME is affiliated, announced this groundbreaking progress in a recent press release.
Tackling the Challenges of Rare Diseases
Genetic abnormalities, caused by errors in the DNA sequence, and epigenetic abnormalities, which involve chemical modifications like DNA methylation, are critical factors in disease development. These alterations influence the activation or deactivation of genes, playing a pivotal role in conditions that are often challenging to diagnose.
“Epigenetic changes, or epi-genetic signatures, are involved in around 10% of developmental disorders,” explains Dr. Joris Vermeesch, a geneticist at CME. “These rare diseases are often difficult to distinguish clinically, forcing patients to go through a real ‘diagnostic odyssey.’”
The Role of Nanopore Sequencing and VSC Support
The novel method utilizes nanopore sequencing technology, which can read the complete DNA base pairs of a genome. A sophisticated algorithm, powered by VSC’s computational capabilities, then analyzes millions of DNA sites to identify potential epigenetic abnormalities.
“This approach requires considerable computing power, which we can obtain thanks to the Flemish supercomputer,” notes Dr. Kris Van Den Bogaert, a geneticist involved in the project. “Support from this project has allowed us to develop this technology and make epigenetic analyses much more efficient.”
Promising Results
A clinical study involving twenty patients, published in Genome Medicine, confirmed the reliability of this method. Not only is it as accurate as traditional techniques, but it is also much faster in detecting epigenetic signatures.
“The combined analysis of epigenetic information and genome sequence in a single test is unprecedented and provides a much more comprehensive view of diseases,” emphasizes Dr. Vermeesch. “This paves the way for faster diagnostics and a better understanding of the causes of rare diseases.”
A New Standard in Diagnostics
This innovative technology could soon become the diagnostic standard in Belgium for patients with unexplained developmental disorders. With a cost comparable to current methods, it has the potential to benefit hundreds of patients each month, reducing the diagnostic journey and offering hope to families affected by rare diseases.
Read more about this breakthrough on the DayFREuro website.
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