Individual research ESR 2

Identification of novel genes that cause Vascular anomalies

Objectives : 

  • Identification of at least one VA-causative gene using NGS
  • To validate the effects of identified gene-mutations on function of the encoded protein in vitro
  • Identification of molecular mechanisms, read-outs, and potential therapeutic targets in a cellular model of disease
  • To generate and characterize a zebrafish model of disease by gene knock-in (if gain of function)/ knock-down (if loss of function)
  • Identification of genotype-phenotype correlations

Expected results:

  • Identification of a novel gene and novel genetic defects that cause a VA (VM, LM, CM, AVM or a related malformation);
  • Establishment of cellular models of disease; identification of molecular mechanisms and read-outs of pathogenicity;
  • Identification of therapeutic targets;
  • Identification of genetically stratified patient groups.