2025 Syntis Classical HCU Research Grant

Crystallography-based fragment screening to develop pharmacological chaperones for classic HCU  

Principal Investigator: Vasu Sethuraman

Vasu Sethuraman

January 15, 2025

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HCU Network America has announced the recipient of its fifth research grant, awarded to the University of Fribourg in Switzerland. The funding will support the development of new therapies to treat classical homocystinuria. The research, led by Dr. Tomas Majtan, aims to develop a cell-based assay to assess CBS protein stability as a screen for pharmacological chaperones. Dr. Majtan is a senior researcher in the Department of Pharmacology at the University of Fribourg in Switzerland.

According to the principal investigator, Dr. Tomas Majtan, “Mutations in the cystathionine beta-synthase (CBS) gene cause the CBS proteins to malfunction. These mutation-impaired CBS proteins don’t fold correctly, are unstable, and break down quickly. When CBS doesn’t work properly, a substance called homocysteine builds up in the body, leading to a condition called homocystinuria (HCU). In this project, we aim to create a new method to monitor how CBS proteins fold inside cells and use this method to find new drugs that can fix the misfolding and instability of these proteins. If successful, this project could lead to new treatments for HCU.

HCU Network America Board President, Margie McGlynn said, “This project will help advance an important screening tool and identify potential chaperone therapies that could stabilize a defective CBS enzyme and lower homocysteine levels in many patients, which would be expected to have a very beneficial effect on their clinical status and quality of life.”

About Dr. Vasu Sethuraman

Vasu Sethuraman, PhD is the head of Research and Development at Syntis Bio. He earned his degree in Chemical Engineering from Virginia Tech and his PhD in Biomedical Engineering at the University of North Carolina School of Medicine.

Syntis Bio's mission is to "develop oral therapies that harness the small intestine's unique biology to provide more accessible, effective, and sustainable solutions across the healthcare spectrum, from rare genetic disorders to the world's most prevalent conditions."


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