New Method Improves Mapping of Neurodegenerative Disease Genetic Variants

A team of investigators at Penn State College of Medicine reports the development of a new method that improves the mapping of genetic variants that influence the risk of neurodegenerative diseases. The method, published in Nature Communications , was created in response to long-standing challenges in connecting genome-wide association study data to specific changes in gene expression within the brain. The researchers sought a new approach because conventional bulk tissue studies mix many cell types together, and available single-cell datasets, although more precise, are small—especially for rare brain cell types that play important roles in conditions such as Alzheimer’s disease and amyotrophic lateral sclerosis (ALS) .

“There’s a lot of emphasis on data generation, but relativel