Wednesday, April 8, 2026

Mapping Genetic Variance In Neurodegenerative Diseases

 

https://www.psu.edu/news/research/story/new-technique-maps-genetic-variants-driving-neurodegenerative-disease-risk 

https://www.insideprecisionmedicine.com/topics/translational-research/new-method-improves-mapping-of-neurodegenerative-disease-genetic-variants/ 

    Researchers at Penn State College of Medicine have invented a new tool to help map genetic variance in patients who suffer from neurodegenerative diseases.  This new tool  was named B.A.S.I.C. which stands for Bulk And Single cell eQTL Integration across Cell states.  The eQTL stands for Expression Quantitative Trait Loci which is a method that measures expression levels  of certain genes.  The BASIC system operates by analyzing both bulk tissue samples as well as single cell data.  The system is able to detect brain cells that conventional methods often miss.  One example of this is microglia cells in the brain that are responsible for regulating brain development.  The new BASIC system is able to detect these specialized cells and diagnose diseases when  they are not present.  The team at Penn State's Medical College  has already used this system to identify new genes that are linked to both Alzheimer's and ALS.  

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