Leuven Centre for Human Genetics develops new method to detect rare diseases

Researchers at the Leuven Centre for Human Genetics have developed a groundbreaking test that detects both genetic and epigenetic abnormalities in a single analysis. The method promises faster diagnoses for rare diseases.
Genetic abnormalities involve errors in the sequence of DNA base pairs, while epigenetic abnormalities include chemical modifications, such as methylation, that regulate whether certain genes are “on” or “off”.
“Epigenetic changes, also known as episignatures, are linked to about 10 per cent of developmental disorders,” explained geneticist Joris Vermeesch. “These often concern very rare diseases that are clinically difficult to distinguish, leading patients through a ‘diagnostic odyssey’.”
Nanopore sequencing
The new, innovative testing method uses nanopore sequencing, which can read all DNA base pairs across an entire genome - the set of DNA instructions found in a cell. An advanced algorithm is then employed to scan millions of sites in the DNA for potential epigenetic abnormalities.
“This requires immense computing power, which is why we rely on the Flemish Supercomputer Centre,” said geneticist Kris Van Den Bogaert. “With the support of that project, we’ve made significant strides in this technology, allowing epigenetic analyses to be far more efficient.”
Fast and cost-effective
A clinical study involving 20 patients, published in the journal Genome Medicine, demonstrated that the new test is at least as reliable as traditional techniques for detecting episignatures, while being significantly faster.
“The integration of epigenetic information with whole-genome sequencing in a single test is unprecedented and provides a much more comprehensive disease profile,” said Vermeesch. “This paves the way for quicker diagnoses and a deeper understanding of the causes of rare conditions.”
The new technology is expected to become the standard in Belgium for diagnosing patients with unexplained developmental disorders. In the future, it could help hundreds of patients each month. Its costs are comparable to those of older methods, ensuring accessibility for patients.
#FlandersNewsService | Researchers at the Centre for Human Genetics of KU Leuven © BELGA PHOTO ERIC LALMAND
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