| Title: | Somatic mutations load in autoinflammatory disorders genes |
| Lead Institution: | University of Barcelona |
| Principal investigator: |
Application 119044
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About
All humans have millions of genetic variants, which we often refer to as mutations. Most of these mutations are neutral, meaning that they have no significant effect on our health, but some of them can lead to genetic diseases. Most commonly these mutations are inherited from one of our parents, but all humans also generate somatic mutations due to errors in DNA replication, which are restricted to the originating cell and its descendants and therefore often to specific tissues. In some cases, these mutations affect key genes in cellular function, leading to cancer. In recent years, it has been described that somatic mutations can also cause other genetic diseases beyond cancer, and a particularly large number of cases have been described in primary immunodeficiencies and specially in autoinflammatory diseases, a heterogeneous group of rare disorders mostly caused by mutations in a single gene. In some cases originated by somatic mutations these diseases appear in adulthood, due to the expansion of a group of blood cells with the mutation. In this study, we aim to analyze the presence of pathogenic mutations for autoinflammatory diseases in the general population, at cell frequencies that do not yet generate important clinical symptoms but with the potential to do so at older ages. By doing so, we hope to be able to measure the burden of these mutations with pathogenic potential in the population and to deepen the understanding of these diseases.1 Publication
| Pub ID | Title | Author(s) | Year | Journal |
|---|---|---|---|---|
| 15000 | Rare Variant Association Analysis Uncovers Involvement of VNN2 in Stroke Outcome. | Estefanía Alcaide-Consuegra (+24) | 2025 | Stroke |
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