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Bernardo Aguzzoli-Heberle

Aguzzzoli Heberle_Bernardo_PDDS25
Predoctoral Fellowship in Drug Discovery, 2025 University of Kentucky

RNA Isoforms: Cracking Alzheimer’s Hidden Messages

Summary

RNA is a molecule similar to DNA that is essential for most biological functions. Our genes can send out many different RNA “messages” called isoforms, each with its own set of instructions for how our cells should function. These isoforms are crucial to keep our cells functioning properly, but when their balance is disrupted, they can send cells the wrong instructions and lead to disease. Until recently, scientists had to group all isoforms from a single gene into one measurement because older technologies could not tell them apart. Now, with a powerful tool called long-read sequencing, we can measure different isoforms from the same gene and better understand their impact in diseases. We’re using this technology to study brain samples from people who died with Alzheimer’s disease and comparing them to samples from people who died without the disease. By doing this, we hope to find disrupted isoforms in Alzheimer’s disease brains — potentially revealing new targets for better treatments and earlier, more accurate diagnosis.

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.

Bernardo Aguzzoli-Heberle
PhRMA Foundation
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