Sardinia is a rare treasure for geneticists worldwide. These include the Institute of Biomedical and genetic research scientists of the National Research Council (CNR-IRGB), who sequenced the RNA of 600 Sardinians. On the island there are in fact rare genetic variants, which allow you to better understand how the human genome functional.
Professor Francesco Cucca and his team are authors of a study that lasted six years, which analyzed RNA and DNA of 600 Sardinian subjects. Thanks to statistical models, scientists have linked the DNA and RNA of nucleated blood cells. In this way they identified thousands of previously unknown genetic variants, that influence the risk of genetic diseases. The findings shed new light on understanding the human genome, with possible implications for the prevention of hereditary diseases.
Before starting with the middle phase of the study, the researchers had to choose which type of RNA sequence. They are so focused on what polyadenylated, very important in the production of proteins. The polyadenylated RNA also includes other important regulators RNA, allowing a large sequencing and accurately.
The dell'Irgb-Cnr study is neither the first nor the last Sardinian focused on genes. Sardinia The project has been running since 2001 and aims to study how genetic variables influencing parameters of biomedical relevance. Sardinia enjoys local partnerships, such as with CRS4, and international.