Research led by scientists at Queen Mary University of London heralds a new era for genetic sequencing and 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 to determine the frequency of specific expansions of short, understand repetitive DNA sequences in the body. the general population.
These expansions are the most common cause of inherited neurological disorders known as recurrent expansion disorders (REDs). The results of the study showed that REDs are up to three times more common than current estimates, which are based on clinical observation or disease diagnosis. Their frequency was also found to be common between different populations.
Dr. Arianna Tucci, Clinical Reader in Genomic Medicine at Queen Mary University of London who led the research, said: “This very important advance may indicate that REDs such as Huntington’s disease are almost three times more common than we think, meaning we under-diagnose these. Alternatively, the presence of certain DNA repeats might not lead to disease in some people. This could herald a major change in the way we think about genetic testing, profiling and counseling.
“These findings were only possible because we are able to study entire genomes from the 100,000 Genomes Project in many individuals on a large scale. This represents a paradigm shift from traditional studies of small families with a history of a genetic condition to the analysis of large populations of individuals. Our next steps will be to study large cohorts of people carrying these genetic changes, to help us better understand which leads them to develop in certain individuals.
These results are extremely important. These data will force us as a community of researchers, academics and clinicians to evaluate whether these DNA repeats address an unmet diagnostic need in rare neurological diseases, meaning that research into repeat expansion disorders now deserves much more attention.”
Dr. Sarah Tabrizi, professor of clinical neurology at UCL Queen Square Institute of Neurology and co-author of the paper
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Magazine reference:
Ibanez, K., et al. (2024). Increased frequency of repeat expansion mutations in different populations. Naturopathy. doi.org/10.1038/s41591-024-03190-5.