Gene therapy for dyskeratosis congenita? Scientists report first success for dyskeratosis congenita mice

Spanish scientists have reported successful gene therapy treatment for mice with dyskeratosis congenita-like problems.

Aplastic anaemia (very low blood counts due to bone marrow failure) was reversed by introduction of a gene therapy virus, which delivered a top up of the TERT gene.

TERT gene abnormalities cause dyskeratosis congenita in both mice and humans. Interestingly, the TERT gene therapy was also helpful for mice who had dyskeratosis congenita because of Trf gene mutations, suggesting that gene therapy could help or even cure dyskeratosis congenita caused by gene mutations other than TERT.

This type of gene therapy has shown great promise in treatment of other human diseases such as haemophilia – so we at DC Action are hoping for human trials for dyskeratosis congenita.

More information is available here from the American Society of Hematology.