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 […]
European Mathematical Genetics Meeting 2018 Cagliari, Italy, 18th to 20th April, 2018 […]
A study published in the New England Journal of Medicine reports an important new mechanism of predisposition to two autoimmune diseases, multiple sclerosis (MS) and systemic lupus erythematosus (Lupus). The study, supported by the Italian Multiple Sclerosis Foundation (FISM) and the National Institute on Aging of the NIH, was carried out by an international team [...]
A team of international researchers from the SardiNIA/ProgeNIA study, have discovered new genes associated with height, risk factors for heart disease, and regulation of hemoglobin levels, using advanced whole-genome sequencing technology. Findings detected in general population individuals from 4 Sardinian villages assessed in the SardiNIA cohort study are presented in a series of papers in [...]