University of Amsterdam

Can a rare genetic disease lead to a cure for obesity?

Ask the researchers at the Academic Medical Center, University of Amsterdam (Netherlands), and they’ll say, "Yes."

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One of their core projects involves the study of the inherited genetic disorder Gaucher disease. Sufferers lack sufficient levels of a particular enzyme; as a result fatty material accumulates in their organs and bones, causing mild to severe symptoms.

Two cornerstones of their research on Gaucher are the Waters SYNAPT HDMS System and MassLynx software. A name long known for performance and innovation, Waters' ion mobility separations technology has been integral to the university’s work for years.

Currently, the researchers are most intrigued by new alternative approaches to disease-specific therapies for Gaucher. A method known as substrate reduction therapy (SRT) has been tested in clinical studies, found effective and used with great success. With SRT, a small compound is used so an important enzyme is better able to prevent waste from accumulating inside the cell.

If the research group can unlock a well-defined genetic disease like Gaucher, perhaps that information can also be applied to more complex and widespread disorders like obesity and Type 2 diabetes.

That is the goal of the team from academia and the team from Waters.

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