Preventive medicine

The future of prevention lies in the 'dark side' of DNA

Human Technopole research yields new tools to predict and prevent common diseases such as hypertension, cancer and high cholesterol

by Michela Moretti

4 November 2025

3' min read

Translated by AI

Versione italiana

Key points

The 'dark DNA' that regulates health
From population genetics to personalised medicine

3' min read

Translated by AI

Versione italiana

Knowing from an early age the genetic predisposition to obesity or hypertension will one day make it possible to set personalised prevention paths and significantly reduce the risk of the disease. Underlying this perspective is our knowledge of the non-coding DNA, a large portion of the genome, about 98%, that does not produce proteins.

The 'dark DNA' that regulates health

For years referred to as 'dark Dna', or junk Dna, because it is considered to have no functions, research has now realised that it instead represents the control network that regulates the activity of genes and conditions many processes underlying health and disease. 'Non-coding regions,' explains Nicola Pirastu, biologist and head of the Biostatistics Unit of the Human Technopole's Genomics Research Centre, 'control the activation of genes that code for proteins. They do not change the quality of the proteins produced, but the quantity or their presence in a certain type of cell. In this sense, they function as a fine-tuning system that also responds to environmental stimuli.

It is in the non-coding DNA that most of the genetic variants associated with common diseases are concentrated.

'Most of the variants we study,' says Pirastu, 'are inherited and are concentrated in the non-coding DNA, thus acting more like volume knobs rather than switches. Changing how much and when a protein is produced can be enough to determine a higher or lower risk of developing a disease.

One interesting case concerns hypertension: 'In the Japanese,' Pirastu recounts, 'the gene most associated with high blood pressure is the one encoding a liver protein that metabolises alcohol. Those who have a variant that reduces its activity are unable to metabolise alcohol well, feel uncomfortable when they drink and therefore tend to drink less: in fact, this protects them from hypertension. Those who have the opposite variant, on the other hand, feel no discomfort and tend to drink more, increasing their risk. Even if this variant changes the protein, its final impact is strongly modified by variants that instead act on the quantity'.

In cancers, variants in non-coding DNA can act as predisposition switches. 'Today we can add up the effect of millions of variants and calculate a polygenic risk score, i.e. a genetic risk score,' the expert continues. 'In breast cancer, for example, those in the highest risk group are not only more likely to get the disease, but tend to develop the disease earlier. In cancer, he adds, it is important to understand whether the variant is hereditary, or appears over time. Both can act on regulatory regions of the DNA and alter the mechanisms that control cell growth.

Understanding these links helps not only to estimate the risk, but also to identify new therapeutic strategies. 'Just understanding why a certain variant leads to the disease,' he emphasises, 'allows us to understand which processes to intervene on, also in a preventive manner. Some companies are already experimenting with gene therapies for high cholesterol that originate from these studies.

From population genetics to personalised medicine

At Human Technopole, Nicola Pirastu is collaborating on two major research projects led by Professor Nicole Soranzo: Cardinal and Molisani. 'With Cardinal, we are analysing more than 6 000 people, studying thousands of immune cells each. We want to understand how genetic variations influence gene expression in individual immune cells.

The second project, Molisani, carried out with the Neuromed Institute, involves 25,000 Italians from the Molise region and is aimed at assessing whether the genetic risk models developed in Northern Europe are also applicable to the Italian population. 'It will help us to understand whether and how tools such as polygenic risk scores can also be used in public health. The next step is in fact to translate this knowledge into everyday medicine, and to make this information useful for the doctor.

The cost of sequencing is no longer an obstacle today. 'What is missing,' Pirastu concludes, 'is the ability to integrate genetic data into clinical practice. The UK is already doing this. In Italy, too, we have the skills and research to transform genomic knowledge into public health'.

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