Our team combines the expertise and experience of professionals from several departments in the Amsterdam UMC (genetics, paediatrics, ophthalmology, laboratory for genetic metabolic diseases) as well as the patient organization for metabolic diseases (VKS).

In order to carry out this project we have received funding from the AMC Foundation, Stichting Steun Emma, Stichting Metakids, Amsterdam Gastroenterology and Metabolism research institute (AGM) and the horstingstuit foundation.

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Dr. Ir. Anneloor ten Asbroek

Department of Clinical Genetics,
Amsterdam University Medical Centers


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MD. Msc. Berith Balfoort

Department of Pediatrics,
Amsterdam University Medical Centers



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Prof. Dr. Arthur Bergen

Department of Clinical Genetics, Amsterdam University Medical Centers

Department of Ophthalmology, Amsterdam University Medical Centers

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Prof. Dr. Camiel Boon

Department of Ophthalmology, Amsterdam University Medical Centers

Department of Ophthalmology, Leiden University Medical Center

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Dr. Marion Brands

Pediatrician, fellow metabolic disorders,
Amsterdam University Medical Centers

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Msc. Mark Buijs

Department of Clinical Genetics,
Amsterdam University Medical Centers


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Dr. Sacha Ferdinandusse

Laboratory Genetic Metabolic Diseases, Amsterdam University Medical Centers

Department of Clinical Chemistry, Amsterdam University Medical Centers

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MD. Msc. Elise Ferreira

Departments of Pediatrics and Clinical Genetics,
Amsterdam University Medical Centers

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Prof. Dr. Riekelt Houtkooper

Laboratory Genetic Metabolic Diseases, Amsterdam University Medical Centers



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Prof. Dr. Clara van Karnebeek

Head Dept Metabolic Diseases, Radboud University Medical Center Nijmegen

Principal Investigator, Amsterdam University Medical Centers

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Drs. Patrick Schultink

Patient Representative NL





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RD. Msc. Corrie Timmer

Department of Endocrinology and Metabolism,
Amsterdam University Medical Centers



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Dr. Frédéric Vaz

Laboratory Genetic Metabolic Diseases, Amsterdam University Medical Centers

Department of Clinical Chemistry, Amsterdam University Medical Centers

Core Facility Metabolomics, Amsterdam University Medical Centers

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Prof. Dr. Ronald Wanders

Department of Metabolic Diseases, Amsterdam University Medical Centers

Laboratory Genetic Metabolic Diseases, Amsterdam University Medical Centers

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Prof. Dr. Hans Waterham

Laboratory Genetic Metabolic Diseases, Amsterdam University Medical Centers

Department of Clinical Chemistry, Amsterdam University Medical Centers

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Prof. Dr. Frits Wijburg

Department of Metabolic Diseases,
Amsterdam University Medical Centers



We need you!

Team work is essential in research and care for rare diseases and our plans are ambitious. We kindly invite you as health professional, researcher and/or patient & family to join our efforts. Thanks to our sponsors, we have obtained enough funding to start our project. Of course we will need more funding to continue our research and reach our goals, i.e. a healthy future for all GACR patients. We and our patient community would be really thankful for any donations to support this great cause.

Contact us

If you would like more information about GACR and our research project, or if you are/know a GACR patient who would like to participate in our research project, feel free to contact us at the following email address: GAresearch@amsterdamumc.nl or use the form below.

In order to carry out this project we have received funding from the AMC Foundation, Stichting Steun Emma, Stichting Metakids, Amsterdam Gastroenterology and Metabolism research institute (AGM) and the horstingstuit foundation.

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©2023 H2M Contact Gyrate Atrophy Project