Researchers at the Centre for Human Molecular Genetics, in collaboration with colleagues at the Cavendish Laboratory at the University of Cambridge, have developed a method for directly measuring the length of short repeat expansions in RNA molecules. Expansions of short repeats, known as dynamic mutations, cause more than 70 incurable neurological diseases, and the frequency of mutation carriers is estimated at 1 in 280 people. The method is based on the formation of RNA:DNA nanostructures and determining the number of repeat motifs in native RNA by passing it through glass nanopores. The innovative method is based on technologies developed at the Cavendish Laboratory and the expertise of the Centre for Human Molecular Genetics in the field of dynamic mutations and repeat expansion diseases. The method has not yet been tested on patient samples, but it has the potential to speed up accurate disease diagnosis and be used to predict the response to genetically engineered therapies that are in advanced stages of clinical trials. 

The paper was published in the journal Nature Communications. (10.1038/s41467-026-72819-5). You can read more about the publication in the news article published by the University of Cambridge at link.