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 50pages1426–1434 (2018



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 [...]

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 [...]

New genes linked to short – stature, risk factors for heart disease, and hemoglobin levels regulation

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 [...]

Gene variants found associated with human immune system, autoimmune disease

Numerous studies have reported that certain diseases and quantitative variables of biomedical relevance such as height, or body mass index or levels of sugar in the blood are, to some extent, inherited. According to a team of international researchers led by Francesco Cucca, director of the National Research Council’s (CNR) [...]


National Institute of Health  (USA)



Fondazione Italiana Sclerosi Multipla

Fondazione di Sardegna

Regione Autonoma della Sardegna

Sardegna Ricerche

Associazione Sindrome di Crisponi e Malattie Rare