Mali Hassan, the "baby doll" edited by the winners of the "Lombardy Research" award (photo AdnKronos Salute)
Posted: 08.11.2013 18:23
Epidermolysis bullosa It's a disease that destroys the quality of life of the affected boys. In the most severe forms, 40% do not get puberty. When we were treated, with gene therapy ek-vivo tuning for the junctional shape of epidermolize bullosa, small Hassan "," baby butterfly "arrived from Syria to Germany, in the specialized center of Bohum, "everything was new, and after a few days of surgery we returned for the first time to the hospital where we were. We took a gauze with a vaseline that was covered and we saw pink, a solid normal skin rose. It was absolutely the strongest emotion of my scientific career"It's a story about Michele De Luca, Director and Coordinator of the Genetic Therapy Center of the Center for Regenerative Medicine Stefano Ferrari (Cmr) of the University of Modena and Reggio Emilia.
The scientist he received today at the Teatro alla Scala in Milan Lombard Nobel, together with colleagues Graziella Pellegrini, Cmr Co-ordinator of Therapy Therapy and German Surgeon Tobias Hirsch, he repeated the research researches earned by the pages of "Nature" and was "unanimously" convinced by the jury of 15 scientists, chaired by Giuseppe Remuzzi, who was tasked with identifying the winners of the second edition The award "Lombardy is a research". "It was a long trip, nothing comes from anything, it's continuous," says Pellegrini.
While De Luca returns to the key moment, at the moment the research finds its clinical application. In this case, the recipient of the therapy was a refugee child who, together with his family, was greeted in Germany. The illness, the intersection of Eb, mercilessly angered Hassan. "It was always worse. And at some point He almost died. When he was 7, he lost almost all of his skin, "recalls Hirsch, who has 10 years and" absolutely normal life, "says De Luca." It is completely covered with skin. He no longer made a lesion, balloon, "typical symptoms of the disease."You see him walking and going to school, cycling and traveling with family, It's a dream come true. We are working for this, for the treatment of patients ".
He is experienced and Hassan returned to life. It is a study lesson, says Remuzzi, who urges researchers to "not only work as a factor of influence." The boy appears smiling in a video on the screen set in La Scala while he hits the ball, "even if it's not like Ronaldo," De Luca jokes. For the scientist, "a joyful visit to Hassan's visit to Modena" was even surpassed by a fateful phone call received from Nature, which told him to publish the results of the experiment with his team. World premiere, born in one sector – research – no border. And he was brought by German Hirsch, seeking a chance for his patient, to an Italian center where De Luca and Pellegrini conducted studies.
"On our way We started from afar, from very serious burns – repeats Pelegrini – we have learned so many things. In the middle, there was a scientific experience that led us to reconstruct the cornea and the registration of specific drugs: the first product based on the stems approved by the European Agency as a cure, which accepted the validity of our research and made it available to all patients in Europe. "After Hassan, the adventure continues: from the harm and suffering experienced by the child, we understand more about mechanisms that regulate the preservation of human skin:" It was extraordinary – says the researcher – realize that stem cells that we genetically modified retained in essence normal conditions and succeeded to do their job of continuous renewal. Hassan changed his skin completely at least 36 times".
Hirsh, who said he was "honored" for the recognition of Lombardy, met regularly with a small patient. "It's a miracle for us, it's important to see how this happens over the years, in the study that follows." Scientists are advancing in research. "Hassan was a compassionate case," De Luca notes. "Now we want to continue with the clinical trial of Phase I-II in the form of a junk to confirm the results already obtained in 3 patients (including Hassan), and then we will soon add others."
It's expected for Nobel's Lombards 70% of funds assigned "is devoted to development activities in the territory in cooperation with the research system in Lombardy"This is remembered by the Vice President of the Region and Research, Innovation, University, Export and Internationalization Advisor Fabrizio Sala, which speaks of "a significant response that we will have in terms of competitiveness and employment". And the award-winning scientists confirm their commitment: "We will use it in collaboration with researchers and laboratories in Lombardy to develop some aspects of gene therapy for epidermolysis of biloba (Eb)", explains Michele De Luca, awarded to colleagues Graziella Pellegrini and Tobias Hirsch.
"We are thinking – continues – we are likely to include at least a few Lombard centers, for example, we have the opportunity to use these scholarship grants, grants for research, doctoral scholarships from researchers from Lombard. Much will continue to be dedicated to human resources"Patients with this disease," says Pellegrini, "are extremely complex, have many problems in different areas of the body. This necessarily leads us to a wide field of cooperation, because it should not focus only on a piece of skin. Our was an important step because we replaced the largest body of the human body, but in order to cure the patient, 360 degrees of intervention has to be carried out. "
There are several components, De Luca adds, "clinics, immunology, etc. In addition, we want to use money to give research to researchers, now everything needs to be built." Next steps? "There are two aspects – this is a list – one of the basic research, which will continue to find a way to attack other forms of epidermolysis biloses, because they are not exactly the same and we focused on the form of the connection at this time. Then we will begin new clinical trials that should try to expand the field of action, it takes time – De Luca admits – but we will work hard on this: We want to attack the disease in all its forms".
And this is exactly the hope of the families of these patients present at the Scala ceremony today. "For us all this is something wonderful," says AdnKronos Salute Rosalba Loprevite, mother Aleksandra, 18, "boy butterfly" – This is the starting point for future therapy. Hope is so great and one day is to see how to improve the quality of our children's lives. Life with the epidermolysis plant is devastating. Every day we have to break through the bubbles formed on the skin of the boy, we have to undergo long and painful overflows, make miles from the turn. "
Those who suffer, continuing their mother, "have difficulty even walking or eating because There are many problems, even esophagus, for example. we must find a new life again. First touch the bottom. Then there are so many loves and strengths from the boys themselves. I have a 18 year old son and I can say that we continued with all the difficulties. "From the team that won the Lombardy Research Award, Rosalba expects that" we will soon find a way to get the gene therapy for all patients affected by various forms of illness. Then I dream that these guys are fully accepted. This is an obvious disease and it's still scary. I dream of a better future for new generations, they dream that tomorrow's parents do not need to suffer like us when we see their children crying and suffering. "
"We have a number of previous ideas and experiences – we mean Pellegrini – but we get to the goal it serves a critical mass. "They need funds.
"At this moment we strongly support the Region of Lombardy and thank you for devoting attention to the research, and the Emilia Romagna region has been supporting it for many years." Pellegrini and De Luca respond to those who ask him whether there is adequate support for research by national institutions today.
The winner of the first edition will testify on what they transform and what contribution they give to the funds assigned to the Lombard Prize. Giacomo Rizzolatti (University of Parma), the father of "neural neurons". The scientist decided to invest them to donate experts to the epilepsy hospital Niguard Hospital in Milan, with whom he is conducting a research, a machine for intraoperative monitoring. "Precious Assistance" for successful interventions, reducing the risk of motor deficiency and language for the patient.
"25% of the surgical procedures in the facility used the use of this machine," explains Rizzolatti. "And then there were scientific results that were allowed to be published in magazines such as" Brain "and" Pnas. "This award was also used to guarantee grants for research to a neurologist and surgeon, for Niguard."
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