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Research Haaften Cantu

Research Haaften Cantu

Patiëntenvoorlichting

My research group works on the genetics and biology of orphan diseases. We use the latest sequencing technology to identify the causal mutations in rare genetic disorders. Subsequently we study the consequences of these mutations in model systems as human cell lines and the zebrafish. For the zebrafish work we collaborate closely with the lab of Jeroen Bakkers at the Hubrecht institute.

Group members

  • Maria Zwartkruis (PhD student)
  • Edith Peters (Technician)
  • Federico Tessadori (Postdoc)
  • Helen Roessler (Postdoc)
  • Kirsten Renkema (Assistant professor)
  • Richard van Jaarsveld (Postdoc)
  • Amber van Oirsouw (PhD student)

Cantu syndrome uitklapper, klik om te openen

Gijs coordinates the CantuTreat consortium under the frame of E-Rare-2, the ERA-Net for Research on Rare Diseases. The main goal of the €500.000 grant is to develop a therapeutic approach for Cantu syndrome. The project involves setting up a global patient registry and in silico, in vitro and in vivo testing of sulfonylurea drugs to correct the function of the mutated KATP channel.

Identification of the genetic cause of orphan diseases. We combine whole exome sequencing and subsequent functional studies to pinpoint the causal mutations in several congenital disorders.

Towards treatment of Cantu syndrome. In 2012 we discovered the genetic cause of Cantu syndrome. This rare genetic disorder, characterized by congenital hypertrichosis, distinctive facial features and cardiac defects, is caused by usually de novo missense mutations in the K-ATP channel subunit ABCC9. Currently we are investigating whether drugs targeting this channel might be beneficial for Cantu patients.

Congenital heart disease. In collaboration with several departments within the UMC Utrecht we perform genetic analysis and subsequent functional studies to further understand 

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