New grant strengthens research into hereditary immunodeficiency disorder

Rasmus O. Bak, associate professor at the Department of Biomedicine, researches into the molecular CRISPR ‘genetic scissors’ that can be programmed to 'cut and paste' exact DNA sequences in cells, thereby treating and curing hereditary diseases. One of the diseases that Rasmus O. Bak and his colleagues are looking at is Job Syndrome; a rare, hereditary, immunodeficiency disorder causing eczema and recurrent skin and pulmonary infections.

Job Syndrome is caused by a genetic defect in the STAT3 gene, which is important for the body's ability to produce the neurotransmitters that help fight infections caused by bacteria and fungi. And it requires lifelong prevention and treatment of infections.

"Our hypothesis is that we can correct the genetic defects that cause Job Syndrome using gene editing. This approach involves extracting and treating the haematopoietic stem cells outside the body. We then reinsert the treated cells into the patient, and we then expect the cells to produce a well-functioning immune system," explains Rasmus O. Bak.

He is working on the project in close collaboration with PhD student Sofie Rahbek Dorset, and the grant of USD 200,000 from the American-based Job Research Foundation will enable them to employ a research assistant for the next two years.

The research project is based at the PASCAL-MID research centre, which is supported by Innovation Fund Denmark. The centre focuses on developing CRISPR/Cas-based treatments for hereditary immunodeficiencies, and researchers from the Department of Biomedicine and Aarhus University Hospital are affiliated with the centre.

Contact

Associate Professor and PhD Rasmus O. Bak
Aarhus University, Department of Biomedicine
Mobile: +45 93 92 91 00
Email: bak@biomed.au.dk