Institute for Genetic and Biomedical Research (IRGB)

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 3,514 whole-genome sequenced individuals from Sardinia. Sardinian samples show elevated levels of shared ancestry with Basque individuals, especially samples from the more historically isolated regions of Sardinia. Our analysis also uniquely illuminates how levels of genetic similarity with mainland ancient DNA samples varies subtly across the island. […]

Nature Genetics volume 50, pages1426–1434 (2018)

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. [...]