Bernardo Aguzzoli-Heberle
Using Long-Read RNAseq to Find Targets for Alzheimer’s Disease Treatment
Abstract
Alzheimer’s disease (AD) is a leading cause of dementia, yet its molecular mechanisms remain poorly understood, particularly regarding RNA isoforms—alternative forms of RNA from the same gene that can have distinct or even opposing functions. Previous studies, limited by short-read RNA sequencing, have often overlooked this complexity. This study addresses the gap by using long-read RNA sequencing on brain tissue from 150 AD cases and 150 controls (50% female) to identify and quantify RNA isoforms, exploring their association with AD status and clinicopathological features. Furthermore, the research integrates genotyping to uncover SNPs linked to changes in RNA isoform expression. The findings could reveal novel molecular targets for treatment and early diagnosis of AD. Results will be made easily accessible through a public web interface, offering potential to transform our understanding of AD at a molecular level and contribute to the development of more effective therapies.
Watch a Q&A with Bernardo
This fellowship empowers me to research RNA isoforms in Alzheimer's disease using cutting-edge sequencing to help uncover new treatments. I’m grateful for this opportunity to honor the memory of both my grandfathers, who suffered from this disease.
