Gene Therapy

Gene therapy refers to the transfer of genetic information with the intend to cure a diases. In our lab, we focus on gene therapy for a variety of immune disorders. Our main emphasis is on treatment of severe combined immune deficiency (SCID), sometimes called bubble boy disease, and other primary immune deficiencies such as XLA (BTK-disease). Cossu, Italian Journal of Pediatrics 2010. Currently we are close to clinical implementation of gene therapy for RAG1-deficient SCID. Soon you can find updates here with information for patients and their parents. We closely collaborate with the Willem Alexander Children Clinic at LUMC and the patient advocacy group Stichting afweer stoornissen.

Techniques and methods used include:

  • Genetic or conditional knockout mouse models (Rag1, Rag2, Btk)
  • Models for transplantation of human stem cells (NSG)
  • Retro- or lentiviral expression of transgenes
  • Cell sorting by FACS
  • mRNA expression measurements (qPCR, microarray, RNASeq)
  • 12-color flow cytometry
  • Lentiviral transduction
  • TCR and BCR repertoire assessment

Relevant publications: