Related Experiment Video
Updated: Jul 23, 2025
05:22
Author Spotlight: Characterizing DNA Replication of Pathogenic Repeats to Uncover Mechanisms of Replication Fork Stalling and Expansion
Published on: September 13, 2024
803
Increased frequency of repeat expansion mutations across different populations
Kristina Ibañez1, Bharati Jadhav2, Matteo Zanovello3
1William Harvey Research Institute, Queen Mary University of London, London, EC1M 6BQ, UK.
Medrxiv : the Preprint Server for Health Sciences
|July 18, 2023
Summary
Repeat expansion disorders (REDs) are more common than previously thought, affecting 1 in 283 people. This suggests significant under-diagnosis and incomplete penetrance globally.
Area of Science:
- Genetics
- Neurology
- Genomic Medicine
Background:
- Repeat expansion disorders (REDs) are a group of neurological diseases with significant global health impact.
- Current prevalence estimates for REDs are likely underestimated due to diagnostic challenges and limited data.
Purpose of the Study:
- To re-evaluate the prevalence of REDs using large-scale whole genome sequencing data.
- To investigate the global distribution and genetic ancestry representation of REDs.
Main Methods:
- Whole genome sequencing data from 82,176 individuals across diverse populations were analyzed.
- Disease allele frequencies were calculated and used to model REDs prevalence.
- Genetic data were integrated with age at onset and survival information.
Main Results:
- An overall REDs disease allele frequency of 1 in 283 individuals was identified.
- Modeled prevalence suggests REDs affect two to three times more people than currently reported.
- REDs were found across all major genetic ancestries, challenging population-specific notions.
Conclusions:
- REDs are significantly under-diagnosed globally, with a higher prevalence than previously estimated.
- The findings necessitate a re-evaluation of diagnostic strategies and genetic counseling for REDs worldwide.
- REDs are not confined to specific populations, impacting diverse genetic ancestries.
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