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Contribution of variable number tandem repeats to Amyotrophic Lateral Sclerosis

The number of people in our world over 60 years old is estimated to more than double by 2050. As life expectancy increases, so will the prevalence of age-related neurodegenerative diseases including Amyotrophic Lateral Sclerosis (ALS). The genetic contributions that lead to ALS are still not fully clear despite intensive sequencing efforts, necessitating further studies into genes that cause or modify ALS. We hypothesize that a significant genetic contribution to disease comes from regions of the human genome that are still challenging to characterize using standard sequencing technology. Some of these regions contain repetitive stretches of DNA can expand in patient populations and often can manifest in different neurodegenerative disorders. We have established techniques to characterize these genetic regions in a multiplexed high-throughput manner. We propose to use our approaches to determine the contributions of these repeats to ALS, determine how they aggregate in cells and what additional factors they can bring into these aggregates. Our proposed work will provide insight into novel mechanisms of ALS and help bridge genes associated with disease for the purpose of devising novel therapeutics.
https://doi.org/10.55762/pc.gr.157016
Grantee: Paul Valdmanis, Ph.D
Grant type: Research Grant
Award total: $300,000
Institution: University of Washington
Country: Washington, United States