Dear All,
The ESGLD Chairman and Scientific Committee are happy to announce the second in a series of LD focused bi-monthly seminars. This time we are delighted to have Prof. Hans Aerts, the Chair of the Department of Medical Biochemistry at Leiden University as our eminent presenter.
Prof. Mia Horowitz, Tel Aviv University and ESGLD Scientific Committee member will introduce Prof. Aerts and his talk entitled ‘Studies on glucosylceramide, glucocerebrosidase and Gaucher disease: still inspiring after four decades’
Date & time: Wednesday 14th July 2021, 12pm-1pm (BST)/1pm – 2pm (CEST)
Location: Online Zoom Event – details will follow registration
**Please register for the talk at https://www.eventbrite.co.uk/e/161100876057
Professor Hans Aerts
Hans Aerts chairs the Department of Medical Biochemistry at Leiden University. Earlier he chaired the Department of Biochemistry at the Academic Medical Center in Amsterdam (2000-2014). His research focuses on glycosphingolipids in health and disease with special attention for inherited lysosomal storage disorders like Gaucher disease, as well as neurodegeneration and the Metabolic Syndrome.
Trained in biochemistry at the University of Amsterdam (Prof. Joseph Tager) and the National Institutes of Health in Bethesda, USA, he completed his PhD thesis Biochemical studies on glucocerebrosidase in relation to Gaucher disease with honours in 1988. He was involved in the first application of enzyme replacement therapy and substrate reduction therapy of type 1 Gaucher disease in Europe as well as the discovery of now widely used biomarkers. He has been (co)promotor of 44 completed PhD thesis works and published over 400 peer-reviewed papers (H-index: 94, Google Scholar).
Professor Aerts is recipient of various governmental research grants, including the ERC Advanced Research Grant ‘Chemical Biology of Sphingolipids and the NWO Building Blocks of Life Grant ‘Glucosylceramide’. He is co-founder and honorary president of the European Working Group on Gaucher Disease (EWGGD), a society comprising all major Gaucher clinical and research centres and national patient societies worldwide.
Studies on glucosylceramide, glucocerebrosidase and Gaucher disease: still inspiring after four decades.
Johannes M. Aerts, Dep. Medical Biochemistry, Leiden University.
Almost a century ago Ernest Gaucher published the first case report of a patient suffering from a disorder now named after him. About half a century ago Roscoe Brady reported the molecular basis of Gaucher disease being a deficiency of an acid beta-glucosidase that he named glucocerebrosidase. In this lecture I will present an overview of nearly four decades of own investigations on glucocerebrosidase and Gaucher disease with emphasis to some accomplishments as well as recent developments and remaining research challenges. Studying glucosylceramide, glucocerebrosidase and Gaucher disease has been inspiring and rewarding. Some of the lessons learned will be highlighted. For example, that correction of a lysosomal enzyme defect in visceral macrophages is feasible by enzyme replacement and that it translates in major clinical benefit. This success prompted the development of additional (conceptually alternative) therapies for neurological variants of GD. We also learned that retaining β-glucosidases can show ‘synthetic’ transglycosylation activity giving rise to novel metabolites. Furthermore it proved possible to design activity-based probes for retaining glycosidases that can be applied as research tools. Finally, we learned that primary defects in lysosomal metabolism are accompanied by adaptations causing further metabolite abnormalities such as excessive (toxic) lysolipids in glycosphingolipidoses. The lecture will be closed with a discussion of remaining research challenges, particularly regarding pathophysiological mechanisms underlying symptoms that might also be relevant for other disease conditions.
For any queries please contact susannah.james@manchester.ac.uk
We look forward to seeing you there! Thank you for your continued collaboration and support,
Brian Bigger Chairman ESGLD chairman@ESGLD.org
Pim Pijnappel Treasurer ESGLD treasurer@ESGLD.org
Paul Saftig Secretary ESGLD secretary@ESGLD.org