Exploring the profile of Extracellular Vesicles (EVs) in Lesch-Nyhan Syndrome (LNS)
Awardee: Giulia Bernardini
Institution: Università degli Studi di Siena, Dipartimento di Biotecnologie, Chimica e Farmacia
Grant Amount: $57,332
Funding Period: February 1, 2025 - January 31, 2026
Summary:
Understanding Lesch-Nyhan Syndrome Through Tiny Messengers Lesch-Nyhan Syndrome (LNS) is a very rare genetic disease that mainly affects boys. It causes severe neurological problems, including involuntary movements and self-injury, as well as high levels of uric acid in the blood, which can lead to kidney stones. The current treatment can only help to lower the uric acid levels, but these cannot cope up with neurological and behavioural problems. While we know a lot about the disease, many aspects of how it affects the brain remain a mystery. Our project focuses on tiny particles called extracellular vesicles (EVs). These are small packages released by cells that carry important messages in the form of proteins, fats, and genetic material. They help cells communicate with each other, and in brain diseases, they may play a role in how the disease develops. We aim to develop new ways to study EVs in the blood of people with LNS. By doing this, we hope to: -Understand how EVs contribute to the brain and body changes in LNS. -Identify specific markers in EVs that are unique to LNS, which could help us develop better treatments. -Lay the groundwork for creating therapies that use EVs to target the disease directly. This research could not only improve the understanding of LNS but also open the door to new treatments for this challenging and neglected disease.