New Genes in Sardinia

Recently, Sardinia became apart of the genomic world map for it's newest discoveries of genes and mutations. The SardiNIA project, led by Francesco Cucca, Goncçalo Abecasis, David Schlessinger and John Novembre, found over 17 million new genes after studying the genomes of 2,120 Sardinians. Twenty two percent of these genes were not found anywhere else, and 76,000 of the genes were rare in these populations. The SardiNIA project took much time to analyze these genes for future application.

Map of Sardinia

Some of the specific data found include variants of circulating lipid levels and five inflamatory biomarker, which correspond to two new loci each, They also found the HBB mutation, which is associated with reduced cholesterol levels, the APOA5 missennce variant, which reduces the body's triglyceride levels, a nonsense mutation in GHR, a gene involved with with Laron syndrome, and a mutation involved with KCNQ1. These mutations did not even exist in the 1,000 genomes project. The SardiNIA project even studied the effect of genetic drift on small islands, and concluded that organisms reduce in size once they separate to other islands. In due time, the SardiNIA project will find more data, and promote further research on this new island.




Original Article

Second Article