New thesis on diagnostic methods for genetic immune deficiencies offers hope for better treatments microbiologystudy

Laura Covill from the Hematology Unit/HERM, at the Department of Medicine, Huddinge (MedH), is defending her thesis titled “Genetic and epigenetic diagnostics of viral susceptibility and inborn errors of immunity,” on 29 November, 2024. The main supervisor is Yenan Bryceson (MedH).

What is the main focus of your thesis?

My thesis examines different diagnostic approaches we can take for patients with suspected genetic immunodeficiencies. Properly diagnosing these patients is crucial for knowing how to treat them correctly, but the rate at which we can achieve this is extremely low—around 65% of cases never receive a diagnosis.

What are the most important results?

I would say the final paper, where I used different kinds of data taken from patient cells to identify where disruptions in normal DNA and RNA activity were occurring. This approach has worked really well on patients who have a mutation outside of a gene (which therefore wouldn’t have been caught in the standard tests done in the clinic).

The technique has given us a few more mutations to look at in patients who are being treated in the clinic at the moment without a diagnosis, and hopefully can provide even more if we can apply it to more patients.

How can this new knowledge contribute to the improvement of people’s health?

When we know which mutation is causing the patient’s symptoms, all sorts of things become possible. We can let the patient and their family know the possible outcomes, devise a proper treatment plan, screen other family members or even offer pre-natal screening to make sure future children won’t be sick. In the future, using gene therapies to cure these patients might be possible—but only if we know which gene to target!

What are your future ambitions?

I’m moving to the U.S. to start a post-doc continuing my work on rare disease diagnostics, but hope to return to Swedish research someday. There’s a lot of scope to make a diagnosis more accessible and understandable for anyone who needs one, and I really hope to be able to apply what I’ve learned in the Ph.D. to larger groups of patients.