UMD Catalyst Grant

UMD aims to improve diagnosis, prevention, treatment and care for patients and families with an inherited metabolic disease through UMD Catalyst Grants.
Collaborative projects that fit within the UMD objectives and within one (or more) of the UMD themes are eligible for funding. Researchers can submit an application for a project or for the start/part of a project with a maximum amount of € 15.000. More information and guidelines can be found here.

Catalyst Grant Projecten awarded funding:
Case database for inherited metabolic diseases as a global, shared educational resource
Case database for inherited metabolic diseases as a global, shared educational resource
  • Research team: Irene Körver-Keularts, Klary Niezen-Koning, Estela Rubio Gozalbo, Tom de Koning, Mark Korson, Ron Wevers
  • Participating centers: Maastricht UMC+; UMC Groningen; VMP Genetics, USA; Radboudumc
Pyridoxine-dependent epilepsy: towards newborn screening for a treatable epilepsy and intellectual disability syndrome
Pyridoxine-dependent epilepsy: towards newborn screening for a treatable epilepsy and intellectual disability syndrome
  • Research team: Karlien Coene, Nanda Verhoeven, Eduard Struys, Clara van Karnebeek, Laura Tseng, Levinus Bok, Arno van Rooij
  • Participating centers: Radboudumc; UMC Utrecht; Amsterdam UMC; Maxima MC Veldhoven
Tissue-specific disease models to study treatment opportunities for metabolic disorders - A closer look at skeletal muscle symptoms
Tissue-specific disease models to study treatment opportunities for metabolic disorders - A closer look at skeletal muscle symptoms
  • Research team: Mohammad Alsady, Pim Pijnappel, Federica Conte, Raisa Veizaj, Dirk Lefeber
  • Participating centers: Radboudumc; Erasmus MC
Pyridoxine-dependent epilepsy (PDE-ALDH7A1) in adulthood: delineation of disease course & treatment effects
Pyridoxine-dependent epilepsy (PDE-ALDH7A1) in adulthood: delineation of disease course & treatment effects
  • Research team: Laura Tseng, Levinus Bok, Francjan van Spronsen, Curtis Coughlin, Sidney Gospe, Hans Hartmann, Bregje Jaeger, Ineke Lunsing, Nanda Verhoeven-Duif, Clara van Karnebeek
  • Participating centers: Amsterdam UMC; Máxima Medical Center, Veldhoven; UMC Groningen; University of Colorado School of Medicine, USA; University of Washington, USA; Seattle Children’s Research Institute, USA; Hannover Medical School, Germany; UMC Utrecht; Radboudumc
Confirmation of novel CDG-I mutations in yeast
Confirmation of novel CDG-I mutations in yeast
  • Research team: Dirk Lefeber, Raisa Veisaj, Carlo van Roermund, Lodewijk Ijlst, Hans Waterham
  • Participating centers: Radboudumc; Amsterdam UMC
Targeted long-read Nanopore sequencing for metabolic diseases
Targeted long-read Nanopore sequencing for metabolic diseases
  • Research team: Gijs van Haaften, Peter van Hasselt, Gepke Visser, Sacha Ferdinandusse, Frits Wijburg, Francjan van Spronsen, Glen Monroe, Karen Duran, Joachim Kutzera, Ivo Renkens
  • Participating centers: UMC Utrecht; Amsterdam UMC; UMC Groningen
High throughput screening of protein expression to characterize genetic variants of unknown significance identified by WES/WGS
High throughput screening of protein expression to characterize genetic variants of unknown significance identified by WES/WGS
  • Research team: Jolein Gloerich, Richard Rodenburg, Frédéric Vaz, Sacha Ferdinandusse, Omar Tutakhel, Jenneke Keizer
  • Participating centers: Radboudumc; Amsterdam UMC

The Metakids Foundation facilitated the establishment of the UMD with revenues from the ‘VriendenLoterij Prijzenmarathon’ in 2018 and will do so for at least the next 5 years. In addition, the Metakids Foundation and the UMD will collectively and separately raise additional funding to maintain and further develop UMD into a sustainable collaboration.

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