"SEMICYCLE" the project conceived by Serena Sanna, of the Institute of genetic and biomedical research (Irgb) of the National Research Council of Cagliari, was funded under the Starting Grants 2022 program of the European Research Council (ERC) for a total of 1.5 million euros. The project is aimed at understanding the interactions between female [...]
In a new study, a group of researchers from the University of Groningen who have joined forces as the Groningen Microbiome Team have shown that your genes influence the composition of your gut microbiome. Dr. Serena Sanna, now Director of Research at the IRGB-CNR Institute has coordinated this study together with Prof. Alexandra Zhernakova. The results [...]
A grant recently approved will evaluate a possible approach to the treatment of β-hemoglobinopathies based on the enhancement of HbA2 expression. […]
A study recently published in British Journal of Haematology described a novel missense mutation (p.Pro27Ser) in the GP1BB gene associated with platelets count reduction. […]
The only cure for celiac disease is lifelong adherence to a strict gluten-free diet. IRGB Researchers and collaborators of the University of Groningen have identified a master regulator gene that is a potential drug target for an alternative cure. […]
A new high-resolution genome-wide association study (GWAS) in Italy has revealed genetic variations that can affect autoimmune disease propensity. The research has increased the number of genetic variants known to be involved in the regulation of specific immune cell types, and identified novel targets for treatment. […]
A study published in the Nature Communications journal propose an MR method, MR-link, that accounts for unobserved pleiotropy and LD by leveraging information from individual-level data, even when only one eQTL variant is present. Inference of causality between gene expression and complex traits using Mendelian randomization (MR) is confounded by pleiotropy and linkage [...]
The population of the Mediterranean island of Sardinia has made important contributions to genome-wide association studies of complex disease traits and, based on ancient DNA studies of mainland Europe, Sardinia is hypothesized to be a unique refuge for early Neolithic ancestry. To provide new insights on the genetic history of this flagship population, we analyzed [...]
LinDA is a tool that, for a given variant, determines all the variants in Linkage Disequilibrium and whether they intersect with other association studies. A large manually curated collection of QTL and association studies can be easily interrogated and results are displayed with interactive plots and tables. LinDA offers also complementary tools, such as [...]
Genetic-Driven Druggable Target Identification and Validation […]