Research is ushering in a groundbreaking period for genetic sequencing and testing.
A team of scientists from Queen Mary University of London is leading the way into a new phase of genetic sequencing and testing research.
In the most extensive study of its type to date, released today in Nature Medicine, an international group of researchers from Queen Mary have utilized innovative bioinformatics methods to analyze the genetic data of 80,000 individuals, aiming to assess the occurrence of specific expansions of short repetitive DNA sequences in the general population.
These expansions are the primary cause of inherited neurological disorders, referred to as repeat expansion disorders (REDs). The findings indicate that REDs occur up to three times more frequently than previously estimated, which was based on clinical observations or diagnoses of diseases. The research also demonstrated that these disorders are prevalent across various populations.
Dr. Arianna Tucci, a Clinical Reader in Genomic Medicine at Queen Mary University of London and the principal investigator, stated: “This significant advancement suggests that REDs, such as Huntington’s disease, may be almost three times more prevalent than we currently believe, indicating that we might be missing many cases of these disorders. Alternatively, some individuals may possess certain DNA repeats without developing illness. This could signify a substantial change in our approach to genetic testing, profiling, and counseling.
“Our findings were made possible due to our ability to analyze entire genomes from the 100,000 Genomes Project across a large number of individuals. This marks a shift from the traditional focus on small families with a history of genetic disorders to a comprehensive examination of larger populations. Our next goal is to explore significant groups of individuals with these genetic variations to gain a deeper understanding of why they manifest in some people.
Dr. Sarah Tabrizi, a Professor of Clinical Neurology at the UCL Queen Square Institute of Neurology and a co-author of the study, remarked: “These findings are incredibly important. They will compel us, as a collective of researchers, academic professionals, and healthcare providers, to consider whether these DNA repeats meet an unmet diagnostic requirement for rare neurological diseases, suggesting that repeat expansion disorders require much more focused examination now.”
