The Human δ-globin gene as a therapeutic tool for β-hemoglobinopathies
A grant recently approved will evaluate a possible approach to the treatment of β-hemoglobinopathies based on the enhancement of HbA2 expression. […]
A Sardinian founder mutation in glycoprotein Ib platelet subunit beta (GP1BB) that impacts thrombocytopenia
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. […]
Systematic Prioritization of Candidate Genes in Disease Loci Identifies TRAFD1 as a Master Regulator of IFNγ Signaling in Celiac Disease
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. […]
Complex genetic signatures in immune cells underlie autoimmunity and inform therapy.
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. […]
Mendelian randomization while jointly modeling cis genetics identifies causal relationships between gene expression and lipids.
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 [...]
Genomic history of the Sardinian population
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
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 [...]
Criteria for the optimal use of genetic findings in the drug discovery pipeline
Genetic-Driven Druggable Target Identification and Validation […]
European Mathematical Genetics Meeting
European Mathematical Genetics Meeting 2018 Cagliari, Italy, 18th to 20th April, 2018 […]
Discovery of a gene variant that confers risk of multiple sclerosis and lupus
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 [...]