On Wednesday 12 Novemer at 13:00, Thomas Wisbech Skov defends his PhD dissertation entitled "CRISPR/Cas9-based Gene Editing in Human Hematopoietic Stem Cells for Treatment of GATA2 Deficiency".

New research investigates how the gene editing technology CRISPR/Cas9 can be used to correct the rare hereditary immunodeficiency GATA2 deficiency. The dissertation explores the possibilities for a personalized and safer treatment using the patient’s own stem cells.

GATA2 deficiency is a rare hereditary immunodeficiency caused by mutations in the GATA2 gene. The only current treatment is based on allogeneic hematopoietic stem cell transplantation, in which the patient is transplanted with stem cells from a donor. This is a risky treatment with high mortality, primarily because the donor cells can recognize the patient’s healthy tissue as foreign and attack it. This dissertation investigates the possibility of a treatment based on transplantation of the patient’s own hematopoietic stem cells in which the disease-causing mutation has been repaired. The CRISPR/Cas9 technology has been used to study different ways of performing this genetic repair. The dissertation describes optimization of such genetic correction strategies and investigates the effect of genetic correction in hematopoietic stem cells from a patient with GATA2 deficiency. In addition, potential unwanted side effects of the gene correction are also investigated.

The summary is written by the PhD student.

The defence is public and takes place in 1262-101 (Samfundsmedicinsk Auditorium), Aarhus University and on Zoom. Please see the press release for more information. 

Contact

PhD student Thomas Wisbech Skov
Mail: tws@biomed.au.dk  
Phone: +45 28148123

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