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Sabine Fuchs, paediatrician in metabolic diseases at the UMC Utrecht/ WKZ has received a prestigious Vici grant from ZonMw. This will allow her to expand her research lines and develop gene-correction tools to treat metabolic diseases with the latest techniques. By testing efficacy and safety for three metabolic diseases, it will lay the foundation for clinical treatments of various metabolic diseases in patients. That this grant is being awarded to a paediatrician is unique.   

Sabine Fuchs: "For metabolic diseases - and also many other rare disorders - it is the first time that there is a prospect of a cure. This is because cell and gene therapy tackle the cause of the disease literally at its core. The fault in the DNA is repaired, so to speak. Until now, intensive, symptomatic treatments were mainly available. With cell and gene therapy, there is finally a real chance of a cure."  

Metabolic diseases affect more than 10,000 families in the Netherlands. They are often difficult to treat and are a major cause of infant mortality. New technological advances make it possible to repair the genetic cause of almost all metabolic diseases in cells in the laboratory. Using the latest techniques, this project is developing gene-correction tools to treat metabolic diseases. Then, these tools must be transported to the right place in the body. Sabine was already working on transport systems to the liver. With the VICI grant, she will now also focus on other important organs: the brain, the bone marrow and the eye.  

Sabine Fuchs: "Developments are rapid. And every breakthrough in turn affects all other fields and diseases. The time has come when we should no longer focus on each individual rare disease, but rather look at what is overarching about this large group of different conditions. And one of the overarching factors is the cause of these diseases: they are all caused by flaws in DNA. By developing techniques to repair some specific flaws in different organs, I want to lay the groundwork for treating all these kinds of diseases. In doing so, it remains important to use the various techniques in a responsible and certainly safe way. 

When we do this, I am very hopeful for patients with metabolic diseases. This group of rare patients, who are often on the losing end because they are in the minority and therefore less attractive to drug development, have a real chance of a cure in the future thanks to new treatments." 

UMC Utrecht has an expertise centre for rare disorders (ECZAs) . For hereditary metabolic diseases. This is the place to go for patients with a rare disorder.