Research study Genetic and functional studies of prospective monogenic diseases
We are studying new ways to diagnose and treat inborn errors of immunity and are looking for participants.
Our research focuses on genetic immune disorders that make people more vulnerable to infections, autoimmunity and other serious health problems. We are working to develop gene therapies that target the root cause of these conditions.
By taking part, you support research into inborn errors of immunity. Whether you have a diagnosis or not, your sample can help improve understanding, diagnostics and future treatments.
Aims of the study
To better understand why some gene defects cause serious conditions, and to develop therapies for the underlying defect.
To study the possibility of gene correction for treating inborn errors of immunity.
Read more
What do we study and why participate?
Our research focuses on genetic immune disorders called inborn errors of immunity (IEI). These conditions weaken the immune system, increasing the risk of infections, autoimmune diseases, cancer and other health issues.
We study a range of these conditions, such as, but not limited to: Blau syndrome, DADA2, STAT1 GoF, NBN (Nijmegen breakage syndrome), CHH (Cartilage-hair hypoplasia), and CARMIL2 deficiency.
Our team is working on gene therapy approaches that aim to correct the underlying genetic defects. By studying real patient samples, we hope to develop better diagnostics and long-term treatments for these challenging conditions.
We are currently recruiting participants with or without a diagnosis. Whether you have an immune condition or are a healthy control, your sample helps us identify differences that cannot be detected through existing data or computer models.
Participation involves giving an extra blood sample during your routine hospital appointment. Family members who accompany you may also provide a sample.
While there is no direct personal benefit, your contribution supports important research and helps improve outcomes for others in the future.
Want to participate?
We are looking for participants in two groups: those with a genetic condition and those in a healthy control group. You’re eligible if:
- You or your child has been diagnosed with an inborn error of immunity, or
- You or your child is willing to donate a blood sample to participate in the healthy control group for research purposes.
The sign-up process depends on whether you live in Norway or abroad.
Signing up
If you live in Norway, we ask you to sign up electronically using BankID. If you are outside Norway, a contact form will appear so you can get in touch with us directly. We will then follow up by email with the next steps and consent forms.
What happens next?
Here’s what to expect when you join the study:
- Sign the consent forms: Once you have signed up, you will be provided the forms for signing.
- Sample collection: We may collect an extra blood sample during your routine hospital visit alongside any tests you're already having. For some patients, we can collect other types of samples as well.
- Family members: If a family member accompanies you, they can give a control sample too, if they've signed the healthy volunteer consent form.
- Health records and existing samples: We may collect relevant health information and, in some cases, use existing samples that have already been taken.
- How your samples are used & privacy: Your samples and data help us understand rare genetic conditions, improve diagnostics and develop future treatments. All data is handled securely and in line with ethical and legal standards. Read more in our Privacy Policy.
Preview consent forms and child-friendly information about the study
When you sign up, we will provide the forms for signing (electronically with Norwegian BankID or by email if you live outside Norway). You can preview the consent forms below for both diagnosed participants and healthy controls, and also find information sheets for child participants.
These PDFs are just for your information, in case you want to read the consent form before signing it. There are two versions: one for diagnosed participants and one for healthy controls.
Note: The forms mention several types of samples, but we mainly collect blood samples.
Preview consent forms:
Information sheets for child participants:
We have information sheets to help you explain the study to your child in an age-appropriate way. There are different versions depending on your child’s age and whether they are a diagnosed participant or a healthy control.
Information for diagnosed child participants:
Information for healthy child participants:
