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22 April 2013

CRC Étienne-Le Bel Discovers Screening Method for Fabry Disease

Research conducted at the Centre de recherche clinique Étienne-Le Bel (CRCELB – clinical research centre) was recently in the international spotlight. The research conducted by Christiane Auray-Blais, a researcher who spent eight years of hard work before she finally succeeded in identifying the biomarkers that can be used to identify individuals who have Fabry disease and mitigate its effects on them.

mere-enfant300px_02The two biomarkers, which indicate changes in metabolism, were identified using a state-of-the-art technology: mass spectrometry. Thanks to this discovery, it is now possible to screen people quickly and give them appropriate treatment so that they can enjoy a better quality of life.

Fabry disease stems from a very rare and complex genetic disorder and is caused by a mutation of the GLA gene, which results in an accumulation of toxic compounds in the cells. This causes heart problems, including ventricular arrhythmias and the risk of sudden death, in addition to stroke. The disease can also cause irreversible kidney disorders that must be treated with dialysis.

The disease affects many more men than women. In Canada, France, and the United States, one out of every 40,000 people has the disease. According to Auray-Blais, however, this figure may not be representative, since the disease is very difficult to diagnose. Major complications generally arise after around 15 years of assessment and investigation by doctors. The diagnosis is made by inference, and all too often much too late. Thanks to Auray-Blais’ discovery, however, this disease will now be a lot easier to diagnose from just a urine sample.

This huge medical breakthrough quickly thrust Sherbrooke into the international spotlight and has been discussed at major international scientific conventions and renowned university research centres such as Harvard, not to mention all the screening requests that have been received from around the world. Furthermore, CRC Étienne-Le Bel is already planning to share its easily exportable protocol with the rest of the world.

Sources: La Tribune et Centre de recherche clinique Étienne-Le Bel
Photo credit: Centre de recherche clinique Étienne-Le Bel

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