Research Partners

Clara van Karnebeek
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Professor of Metabolic Diseaeses, Radboud UMC / Amsterdam UMC, department of Peadiatrics, Nijmegen / Amsterdam, The Netherlands

Ivonne Zuidgeest Project Coördinator
Nael Nadif Kasri Professor of Medical Neuroscience for Neurodevelopmental Disorders
Imke Schuurmans Phd student
Alex Garanto Iglesias Assistant Professor, Junior Principal Investigator at Pediatrics and Human Genetics Department

Workpackage 1
Workpackage 3
Cristina Fillat
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Group Leader Center for Biomedical Research in Rare Diseases (CIBERER).
Group Leader Institut d’Investigacions Biomèdiques August Pi i Sunyer. Barcelona, Spain

Antonia Ribes
Angeles Garcia
Eulàlia Segur-Bailach PhD Student at Center for Biomedical Research in Rare Diseases (CIBERER)
Anna Mateu Bosch PhD Student; Liver, digestive system and metabolism department; IDIBAPS

Workpackage 2
Workpackage 4
Blair R. Leavitt
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Professor, Dept. of Medical Genetics, University of British Columbia; Senior Scientist, Centre for Molecular Medicine & Therapeutics, UBC; Director, CMMT Transgenic Core Facility; Director of Research, UBC Centre for HD. Vancouver, Canada.

Hilal Al-shekaili Postdoctoral Fellow | Leavitt Lab Centre for Molecular Medicine and Therapeutics (CMMT)
Muna Abedrabbo Phd student | Leavitt Lab Centre for Molecular Medicine and Therapeutics (CMMT)

Workpackage 2
Workpackage 4
Workpackage 6
Martin Hrabĕ de Angelis
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Professor Experimental Genetics, Department TUM School of Life Sciences, Helmholtz Zentrum, München, Germany.

Sibylle Neumann Secretary
Valerie Gailus-Durner Scientific head German Mouse Clinic
Helmut Fuchs Scientific and technical head German Mouse Clinic
Stefanie Leuchtenberger Project Management
Nathalia Dragano Head of the Energy Metabolism Screen at the German Mouse Clinic

Workpackage 3
Workpackage 4
Stefan Kölker
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Professor, Head, Division of Pediatric Neurology and Metabolic Medicine | Centre for Pediatrics and Adolescent Medicine, University Hospital Heidelberg, Germany

Bianca Dimitrov Postdoctoral Research Fellow
Sabine Jung-Klawitter Biologist
Celine Saad PhD student

Workpackage 3
Dirk Lefeber
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Professor of Glycosylation Disorders in Neurology,
Clinical Laboratory Geneticist, Department of Neurology,
Translational Metabolic Laboratory at Radboud UMC, Nijmegen, The Netherlands

Udo Engelke Researcher Metabolic Laboratory
Jonathan Martens Researcher FELIX Laboratory
Jelle Schuurman Researcher FELIX Laboratory

Workpackage 5
Carole Linster
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Assistant Professor in Biochemistry, University of Luxembourg; Head of Enzymology & Metabolism Group, LCSB, Belvaux, Luxembourg.

Dr. Maria Lorena Cordero Maldonado Research scientist (Aquatic Platform Manager)
Dr. Georg Changsheng LIU Research and development specialist
MSc. Parisa Paydar PhD student
Dr. Ursula Heins Post-doctoral researcher

Workpackage 3
Giancarlo la Marca
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Associate Professor of Clinical Chemistry, Department of Experimental and Clinical Biomedical Sciences, University of Florence.
Head, Newborn Screening, Clinical Chemistry and Pharmacology Lab Meyer Children's Hospital, Florence, Italy
President of the Mass Spectrometry Center, University of Florence

Dr. Roberta Damiano
Maria Luisa Della Bona

Workpackage 3
Workpackage 5
Hanka Dekker
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Patient representative Dutch Patient organisation VKS

The Organic Acidemia Association United States
Selbsthilfegruppe Glutarazidurie e.V. Germany
Volwassenen, Kinderen en Stofwisselingsziekten (VKS) The Netherlands

Workpackage 1

Scientific Advisory Board

Laure Bailly-Cuif

Institut Pasteur, FR

Zebrafish neurogenetics

Matthias Baumgartner

University Children’s Hospital Zurich, CH

Clinical therapy

Mirjam Brullemans-Spansier

Radboudumc, NL

Data steward

Nathalie Cartier

Hôpital Pitié-Salpêtrière, FR

Gene therapy

Holly Kordasiewicz

Ionis Pharmaceuticals Inc, USA

Neurology research and ASOs

Emile van Schaftingen

de Duve Institute, Université catholique de Louvain, BE


Ron Wevers

Radboudumc, NL

Clinical Chemistry / Metabolomics

Cor Oosterwijk


Patient participation

Lieke van der Scheer



Curtis Coughlin II

University of Colorado, USA

Translational research (animal and cellular models) and patient involvement of both PDE and GA1

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This project has received funding from the European Union’s Horizon 2020 research and innovation programme under the EJP RD COFUND-EJP N° 825575.


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