News • GATA2 deficiency
New gene-editing technology could help treat rare diseases
Researchers at Aarhus University have demonstrated that a new form of gene therapy can correct genetic defects in patients’ own stem cells. In the future, the method could potentially be used to treat rare inherited diseases that affect the immune system.
Image source: Aarhus University; photo: private
Some people are born with a defect in their genetic material that prevents their immune system from functioning properly. In people with a condition known as GATA2 deficiency, the body does not produce enough immune cells, leaving them at increased risk of infections and disease. Now, researchers at Aarhus University have demonstrated that they can repair the genetic defect directly in patients’ own blood stem cells.
The team published their findings in the journal Science Translational Medicine.
Using a new technique called prime editing, the researchers have successfully corrected part of the genetic defect in stem cells taken from a patient. According to Jonas Holst Wolff, a postdoctoral researcher at the Department of Biomedicine who conducted the study together with Professor Jacob Giehm Mikkelsen, the technique could have significant implications for patients with genetic disorders in the future.
“We have shown that it’s possible to repair the genetic defect directly in a patient’s own stem cells. This brings us one step closer to a treatment that addresses the underlying cause of the disease rather than simply treating its consequences.”
Image source: Aarhus University; AU foto
Prime editing builds on the well-established CRISPR technology but works in a different way. Traditional CRISPR involves cutting through DNA to make changes. This can affect the cells and, in some cases, lead to unintended changes elsewhere in the genetic material. With prime editing, the DNA is not cut all the way through. Instead, researchers can insert a small piece of correct DNA at the precise location of the defect. This makes the method more precise and gentler on the stem cells, while also reducing the risk of side effects.
Patients with GATA2 deficiency have one normal copy and one disease-causing copy of the affected gene. This means that around half of the gene copies in their stem cells function normally to begin with. Following gene editing, the proportion of normally functioning gene copies increased from 50% to 70%.
The researchers also observed an improvement in the function of the protein affected by the disease. “This shows that we do not necessarily need to correct every gene copy. What matters is whether we can improve the cells’ function enough to make a difference for the patient,” explains Jonas Holst Wolff.
Although the study suggests that prime editing is effective, the method is not yet ready for use in patients. The next major step is for the researchers to demonstrate that the technique can be used to treat the much larger number of stem cells needed for a patient to receive their own gene-edited stem cells.
The researchers also need to establish which patients with immune deficiencies would benefit most from the treatment. Some patients with GATA2 deficiency can currently be treated with stem cells from a donor, but prime editing could be particularly important for patients who have no other treatment options.
According to Jonas Holst Wolff, prime editing could also have significant implications for patients with genetic defects other than GATA2 deficiency. “In principle, the same approach could be used to treat other inherited diseases, provided we know the precise genetic defect responsible,” he says, adding: “Our goal is to develop a treatment tailored to the specific genetic defect in each individual patient. If we succeed, it could open up new possibilities for people with rare inherited diseases.”
Source: Aarhus University
15.10.2026
