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The study marks a significant shift from traditional research that focuses on small, family-based samples to extensive population-wide analysis.
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Inherited Neurological Conditions Likely Underdiagnosed, Study Finds

A new study finds that inherited neurological conditions may be three times more common than previously thought, reshaping genetic testing and diagnostic practices

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Published:Oct 09, 2024
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Researchers at Queen Mary University of London have unveiled significant new insights into repeat expansion disorders (REDs) through the largest study of its kind, published in the journal Nature Medicine. Using advanced bioinformatics techniques, the team analyzed the genetic profiles of 80,000 individuals, revealing that REDs—common causes of inherited neurological conditions—are up to three times more prevalent than current clinical estimates suggest.

The study indicates that REDs like Huntington’s disease “are nearly three times more common than we think, meaning we’re underdiagnosing these conditions,” said Arianna Tucci, PhD, clinical reader in genomic medicine at Queen Mary University London, who led the research. The findings also suggest that having certain DNA repeats may not lead to illness in some individuals, prompting a needed reevaluation of genetic testing and counseling practices.

The research draws on data from the 100,000 Genomes Project, marking a significant shift from traditional research that focuses on small, family-based samples to extensive population-wide analysis.

“These results are extremely important,” said Sarah Tabrizi, PhD, professor of clinical neurology at the UCL Queen Square Institute of Neurology and co-author on the paper. “These data will force us as a community of researchers, academics, and doctors to evaluate whether these DNA repeats address an unmet diagnostic need in rare neurological diseases, meaning the investigation of repeat expansion disorders deserves much more close attention now.” 

Future research will aim to study larger cohorts carrying these genetic changes, enhancing our understanding of how these disorders manifest in individuals. This study not only reshapes our perspective on REDs but also paves the way for improved genetic diagnostics and patient care.

Note: This news summary was generated by AI based on a published press release, followed by a review from human editors.