Fundamental research: Europe is not bridging the gap with the US
October 2nd marked the 100th anniversary of the birth of Christian de Duve, Nobel Prize-winning Belgian cytologist and biochemist who discovered two cell organelles, lysosome (in 1955) and peroxisome (in 1966), for which he shared the 1974 Nobel Prize in Physiology or Medicine with fellow Belgian Albert Claude and Romanian-born American George Palade. The award recognized their ‘discoveries concerning the structural and functional organization of the cell’. Albert Claude pioneered the application of electron microscopy for the study of animal cells and developed the technique of differential centrifugation during the 1930’s and 40’s at the Rockefeller Institute while George Palade discovered what are now known as ribosomes, further demonstrating their role in protein synthesis and describing the protein secretory process. De Duve’s work was a direct consequence of Claude’s contributions in the chemical fractionation of cell components and his discovery of lysosomes laid the groundwork for the understanding of the mechanisms of several metabolic disorders such as Pompe disease and Gaucher disease. These rare diseases are grouped together under the name of Lysosomal Storage Disorders (LSDs), a group of approximately 50 inherited metabolic disorders resulting from defects in lysosomal function which affect mostly children who often die at a young and unpredictable age.
Although there are currently no cures for LSDs (despite the promises of gene therapy) and treatment is mostly symptomatic, enzyme replacement therapy (ERT) has been shown to minimize symptoms and prevent permanent organ damage. Early detection is therefore critical to allow treatment and control of these rare disorders in newborns and depends on the availability of accurate screening tests. The US FDA has recently cleared a neonatal screening test for Mucopolysaccharidosis Type 1 (MPS I), Pompe disease, Gaucher disease and Fabry disease through the de novo premarket review pathway. The Seeker system (which is also CE-marked and manufactured by Baebies, Durham, NC, USA) consists of a reagent kit and instrument for measuring the activity of enzymes associated with any of the four LSDs in dried blood samples collected from the prick of a newborn’s heel 24 to 48 hours after birth.
None of these developments would be possible without advances in fundamental research and, unfortunately, Europe is still lagging behind the US and possibly China in this respect. In Belgium, a major research funding organization (the FNRS, founded in 1928) recently announced it could only finance 20% of grant requests although 60% were qualified as exceptional or excellent. It is high time for European governments and institutions to heed the late Professor de Duve’s words: ‘To overcome disease one must first understand it’.
