Genetic studies that explain why some people die of Covid and those who develop it with mild symptoms

• Direct Latest news about the coronavirus

Although vaccines are effective against

and virus-induced severe disease and are now less scary, there are many unknowns to discover about

and how it works in the human body. In particular, understanding

and what characteristics make them more prone

is still relevant

deciding how best to protect them, perhaps by studying

for them.

Genetics play a prominent role in these studies because it helps identify which genes can make people more vulnerable to the virus. There are several, which add to the known risk factors that aggravate

infection

(such as advanced age and previous diseases such as diabetes, obesity, respiratory problems) and constitute what can be defined as a

a

the "abnormal" (or insufficient) reaction of the body to the

.

The GEN-COVID consortium is made up of doctors from 40 Italian hospitals, physicists, mathematicians, data scientists and experts in artificial intelligence. Professor

, Professor of Medical Genetics at the University of Siena and UOC Director of Medical Genetics at the University Hospital of Siena, coordinates the group's work.

Which "culprit" genes have been identified and how is this knowledge used in clinical practice? For example,

have a defect in the virus's RNA sensor. It's called

. The body does not immediately feel that the virus has arrived and does not activate the first defense barrier (innate immunity). The TLR7 gene is on the

and women who have this defect have the second chromosome with the compensating gene active, so they are fine, even when infected. The seriously ill are the men. Knowledge of this abnormality in patients allows treatment with

(the key molecule of innate immunity). Other subjects, always male, have a protein (

) that triggers blood clots too easily in the blood vessels. These are mainly

and a high laboratory value of (

) which is the sign of the presence of thrombosis. For these patients, negotiations have begun with Novartis to obtain

, a monoclonal antibody against Selectin P, which would be of great help in the treatment of acute infection. Will there be other implications of this knowledge in the immediate future? Knowing our genes sometimes also helps us understand

. A group of men who have another defective viral RNA sensor (TLR3) induces little autophagy (which is a defense mechanism).

treatment

reduces autophagy, so this drug is not recommended in this type of patient. Unfortunately, when the clinical trials with

were conducted

, the patients were not selected in the correct way, because that knowledge was not there and the drug was put into disuse. With the spread of vaccines, the presence of monoclonal antibodies and the hope of the first antiviral to come, what are the prospects for this type of study? How they are integrated into research for drugs against Covid The vaccine reduces the likelihood of serious illnesses and infections. Monoclonal antibodies are helpful at a very early stage of the disease. Antivirals fire against the virus by reducing its load inside cells. The

based on genetic markers, on which the GEN-COVID consortium works,

in cases in which all these barriers have been forced and the process of

is triggered

.

Therefore, helping those who are still hospitalized and whose lives are at risk is a concrete objective.

We ask that the pharmaceutical agency AIFA adopt a more modern criterion for the judgment of approval of clinical trials.

Many of the drugs we propose are already on the market (except

) and therefore have been validated for some time for their safety.

The novelty lies in proposing the right drug to the right patient based on how the body was "built".

According to the criteria of The Trust Project

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