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Gene Therapy

DEFINITION: Gene editing (or genome editing) is the insertion, deletion or replacement of DNA at a specific site in the genome of an organism or cell. It is usually achieved in the lab using engineered nucleases also known as molecular scissors. This work will not just benefit EB but will in theory be applicable to people who suffer one of the estimated 5400 genetic disorders in the world, which accounts for 10% of people, 30 million in Europe alone.

 

Aims

  • Correcting a sufferer’s own cells
  • Introducing a correct copy of the gene into cells (or switching off a faulty gene in dominant types). This is often via a viral vector a Lentiviral vector to gene modify patient fibroblasts and mesenchymal stromal cells

Examples

Aboena Therapeutics skin graft trial– grafting the participant’s own cells, which are genetically engineered in the lab to express the missing type VII collagen, and then transplanted back into the patient.
Trial information

Krystal Biotech – developing a viral vector (a tool used to deliver genetic material into cells)
KB103 Krystal Biotech HSV viral vector
Further information

Professor Michele de Luca – successful skin regeneration on a young boy with Junctional EB
Press:
Nature – paper
Nature – article

Amryt Pharma –  Developing a non-viral gene therapy approach, using a polymer, applied topically, which delivers the missing type VII collagen into skin cells.
Further information