Research led by scientists at Queen Mary University of London heralds a new era in gene sequencing and genetic testing.
In the largest study of its kind to date, published today in Nature Medicine, an international group of researchers led by Queen Mary used new bioinformatics techniques to scan the genetic profiles of 80,000 people. Understood the frequency of certain expansions of short repetitive DNA sequences in the body. ordinary people.
These dilations are the most common cause of an inherited neurological condition known as repetitive dilation disorder (RED). The results of this study showed that the frequency of RED is up to three times higher than current estimates based on clinical observation or disease diagnosis. It was also found that the frequency was common among different populations.
Dr Ariana Tucci, Clinical Leader in Genomic Medicine at Queen Mary University of London, who led the study, said: “This hugely important advance means that RED like Huntington’s disease is nearly three times more common than we thought. “This could mean that we are underdiagnosing these REDs.” Alternatively, some people may have certain DNA repeats but not get sick. This could lead to major changes in the way we think about genetic testing, profiling, and counseling.
“These discoveries were made possible because we were able to study whole genomes from the 100,000 Genomes Project of many individuals at scale. “Our next step is to study large cohorts of people with these genetic changes and to analyze specific individuals.” The goal is to better understand what leads to the onset of the disease. ”
These results are very important. These data require us, as a community of researchers, scholars, and physicians, to assess whether these DNA repeats address an unmet diagnostic need in rare neurological diseases, and research into repeat expansion disorders is Now it means it’s worth paying even more close attention to. ”
Dr Sarah Tabrizi, Professor of Clinical Neurology at UCL Queen Square Institute of Neurology and co-author of the paper
sauce:
Queen Mary University of London
Reference magazines:
Ibáñez, K., et al. (2024). Increased frequency of repeat expansion mutations among different populations. natural medicine. doi.org/10.1038/s41591-024-03190-5.
