They will donate blood for research, so that their genetic information contributes to the advancement of knowledge about a very rare, often fatal disease called Atypical Seu Hemolytic Uremic Syndrome. Once again the donors of Avis provinciale Bergamo, almost 37 thousand people, when it comes to collaborating with the Mario Negri research center, do not hold back. The samples collected, in addition to leading to the identification of a panel of gene variants associated with the disease, will form a biobank available for other projects.
«In our DNA, there is solidarity»
A long-standing partnership, but recently strengthened. For this reason, the president of Avis provinciale Bergamo is satisfied, Artemio Trapattoni, in the second term: «We have restarted our activity with Mario Negri on the occasion of the project Origin, which intended to investigate the links between COVID-19 disease and genetic factors, spreading it among our members, an active and widespread network whose tentacles extend far beyond the associative reality”. The commitment of the volunteers has gone even further, in the form of financial aid to a researcher, he says, then other projects, including the biobank. «Research calls, the Avisinis answer. Donating blood to conduct genetic and biochemical analyzes for research purposes is not very different from donating blood as we always do» comments Tiziano Gamba, referent of the Bergamo provincial Avis scientific committee and member of national Avis, who recalls how the collaboration with Mario Hard blacks for at least thirty years, since he was president of the provincial section of Avis. «In the DNA of donors there is solidarity and in our statute there is an explicit invitation to participate in scientific research of particular social interest. Like those on rare diseases, which often affect the youngest, orphans of treatments and even of funding, because they are not at the center of the interests of large pharmaceutical companies”. The generosity and enthusiasm of the citizens of Avisino are confirmed by the fact that the switchboard of the Mario Negri was contacted by many diligent donors even before the opening of the project.
In 10% of cases, the disease originates from gene variants
Seu hemolytic uremic syndrome, a very rare disease that affects less than one person every 100 thousand inhabitants on which Mario Negri has been working for over twenty years, coming to understand the disease mechanisms, including the impact of genetic and triggering factors. “Thanks to Avis, we will have healthy controls to compare with patient data,” he explains Marina Noris, head of the Mario Negri Medical Genetics Center. Seu is characterized by the breakdown of red blood cells, the reduction of platelets, thrombotic microangiopathy and acute renal failure, due to the presence of microthrombi which close the small vessels of the kidney. Bergamo studies on clinical information and biological samples of over 1700 people worldwide have led to the identification of the cause which, in 90% of cases, is of infectious origin, occurs mainly in the pediatric population and generally resolves with infection . «In 10% of cases, however, Seu is due to a series of gene variants that we have identified» explains Marina Noris. “For this form, called atypical HUS, we also have a drug, the monoclonal antibody ecolizumab, which wards off acute renal failure that would otherwise be fatal within two years”. Mario Negri has become a point of reference for this disease not only in Italy, so much so that 40% of the 1700 patients in the register come from abroad.
Objective: to identify a panel of disease genes
The identification of the genetic factors associated with the onset of the disease, its progression and response to drugs took place by studying the genomes of hundreds of patients. «The complexity depends on the fact that Seu, in addition to being rare, is heterogeneous from a genetic point of view. In 40% of cases we fail to identify the genes responsible for the disease» explains Norin, who recalls how modern genomic sequencing techniques, called next generation sequencing ngs, allow the mapping of the entire exome, the part of the genome that codes for proteins, about 20 thousand genes, quickly and at progressively decreasing costs. «Having the genome of healthy people is of great help in identifying common variants in the general population and, by comparing them with those of patients, quickly identifying clinically significant genetic alterations».
Why genetic screening?
Despite the notable recent advances in large-scale whole genome sequencing technology and despite the successful experiences of other countries, large population genomic screening projects are lacking in Italy. Not to mention integrating genomics into the healthcare system. Yet, it’s not just a matter of rare diseases. On the contrary, “as has also clearly emerged with Covid, and the great individual variability in the response to the infection, being able to readily have this kind of data has allowed the large English consortia to promptly identify the genome predisposing to severe Covid”. The same is true for widespread diseases, such as diabetes and hypertension, where the genetic contribution is complex but the familiarity is very present. «We are grateful to the Avis volunteers for generously making their biological samples available. Research without volunteering would not survive. We have been collaborating with Avis for some time and we are open to any new collaboration proposal».
Donate your genetic information
«The databases are essential for the progress of research and we, like Avis, have access to a great deal of data, deriving from the analyzes of suitability for the donation and from the periodic checks of the Avisini» concludes Gamba «And the Mario Negri is an important independent research of excellence”. Technically, you will be asked to donate 20 milliliters of blood, a biological sample on which genetic, biochemical and metabolic investigations will be conducted and which will be frozen and stored anonymously for the time necessary to conclude the study, but also for the creation of a biobank of the clinical research center for rare diseases in Ranica, to be consulted for future investigations on other diseases. To book the sampling, contact the Mario Negri Day Hospital Secretariat Tel. 035/4535319 (from Monday to Friday 9-13/14-17) [email protected]
The opening photo is of Photoholgic are Unsplash