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Ans van der Ploeg

What I really love about my Job is something to be written here...

Ans van der Ploeg

Center for Lysosomal and Metabolic Diseases, Erasmus MC University Hospital Rotterdam, The Netherlands

Professor Ans T. van der Ploeg MD, PhD is Chair of the Center for Lysosomal and Metabolic Diseases at the Erasmus MC University. The center is a joined initiative of the departments of Pediatrics, (Child)Neurology, Internal Medicine, Clinical Genetics and Hospital Pharmacy to improve treatment, care and diagnosis of children and adults, to stimulate translational research, to provide education and to disseminate information. It serves as the national center of expertise for treatment with enzyme replacement therapy of patients with MPS I, MPS II, MPS VI and Pompe disease. The research performed by the center mainly focuses on lysosomal storage disorders and in particular Pompe disease, and includes clinical research as well as development of innovative therapies (Gene and cell based therapies). The Center is governor of the international Pompe mutation database www.pompecenter.nl

Van der Ploeg received her MD cum laude in 1985 at the Erasmus University. From 1985 till 1989 she worked at the Department of Cell Biology and Clinical Genetics on the feasibility of enzyme replacement therapy in cellular models for Pompe disease. She finished her PhD in 1989. The title of her thesis was “Glycogenosis type II: A study on clinical heterogeneity and enzyme replacement therapy”. Since then she has been involved in the multiple steps leading to final development of the therapy: Cloning of the gene, biotechnological production of recombinant human alpha-glucosidase (the enzyme deficient in Pompe disease) in milk of transgenic mice and rabbits, and in CHO cells; development of a knock-out model for Pompe disease; feasibility studies in mice and finally the first clinical trial in infants; and later the international multicenter placebo controlled trial that showed effects of therapy in adults.

She received several awards for her work on the development of enzyme therapy for Pompe disease; In 1990, “The Research award for young investigators” from Erasmus University Rotterdam, in 1997 the “Pharming therapy award”, and 2009 the “Crown award” from the Prinses Beatrix Fund.
From 1994-2001 she was Staff Member on the ICU of the department of Neonatology at the Sophia Children’s Hospital. She completed a residency in Pediatrics in 1994.

In 2001 she joined the Department of Metabolic Diseases and Genetics. In 2007 she became chair of the Center for Lysosomal and Metabolic. She became a full professor in metabolic diseases in 2009.
Van der Ploeg has been/is a reviewer on several scientific boards, serves as advisor, and collaborates closely with national and international patient associations among which the International Pompe patient Association (IPA). She serves as ad hoc reviewer for various scientific journals. She is member of the World Muscle Society and Study Group of Inborn Errors of Metabolism (SSIEM). She has been organizer of several international meetings among which 12 international Pompe expert days; the MPS Symposium in 2012 with 750 participants. She will be organizer of the SSIEM symposium in 2019 with over 2000 participants. She participates in 7th EU Framework Programme ‘Euclyd – a European Consortium for Lysosomal Storage Diseases’ [health F2/2008 grant agreement 201678] and European Community’s Seventh Framework Programme (FP7/2007-2013) – MeuSIX [304999] –(Gene therapy for MPS VI).

Professor van der Ploeg has published more than 150 articles in peer reviewed scientific medical journals and books, and has given many lectures at scientific meetings.

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For more information please contact
Prof. Maurizio Scarpa, MD, PhD
MetabERN Coordinator

MetabERN is one of the 24 European Reference Networks (ERNs) approved by the ERN Board of Member States. The ERNs are co-funded by the European Commission. For more information about the ERNs and the EU health strategy, please visit ec.europa.eu/health/ern

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