Laura Covill. Credit score: Karolinska Institutet
Laura Covill from the Hematology Unit/HERM, on the Division of Medication, Huddinge (MedH), is defending her thesis titled “Genetic and epigenetic diagnostics of viral susceptibility and inborn errors of immunity,” on 29 November, 2024. The primary supervisor is Yenan Bryceson (MedH).
What’s the primary focus of your thesis?
My thesis examines completely different diagnostic approaches we are able to take for sufferers with suspected genetic immunodeficiencies. Correctly diagnosing these sufferers is essential for figuring out methods to deal with them appropriately, however the fee at which we are able to obtain that is extraordinarily low—round 65% of circumstances by no means obtain a analysis.
What are a very powerful outcomes?
I might say the ultimate paper, the place I used completely different sorts of knowledge taken from affected person cells to establish the place disruptions in regular DNA and RNA exercise had been occurring. This method has labored very well on sufferers who’ve a mutation outdoors of a gene (which due to this fact would not have been caught in the usual checks performed within the clinic).
The approach has given us just a few extra mutations to take a look at in sufferers who’re being handled within the clinic in the intervening time and not using a analysis, and hopefully can present much more if we are able to apply it to extra sufferers.
How can this new data contribute to the advance of individuals’s well being?
Once we know which mutation is inflicting the affected person’s signs, all types of issues change into doable. We are able to let the affected person and their household know the doable outcomes, devise a correct remedy plan, display different relations and even supply pre-natal screening to ensure future youngsters will not be sick. Sooner or later, utilizing gene therapies to treatment these sufferers could be doable—however provided that we all know which gene to focus on!
What are your future ambitions?
I am shifting to the U.S. to start out a post-doc persevering with my work on uncommon illness diagnostics, however hope to return to Swedish analysis sometime. There’s a number of scope to make a analysis extra accessible and comprehensible for anybody who wants one, and I actually hope to have the ability to apply what I’ve discovered within the Ph.D. to bigger teams of sufferers.
Extra data:
Genetic and epigenetic diagnostics of viral susceptibility and inborn errors of immunity. openarchive.ki.se/articles/the … 152478?file=50181009
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New thesis on diagnostic strategies for genetic immune deficiencies presents hope for higher remedies (2024, November 26)
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