The data presented at the opening press conference at the congress of the Italian Society of Pediatric Research. ‘More surveillance of rare diseases is needed
One child in 50,000, with newborn screening, suffers from a severe genetic defect. But for every case diagnosed, three are not recognized in time and die within the first year of life. A serious situation where an extension of the scientific methodology to territorial pediatrics is necessary to increase physicians’ monitoring of these rare forms. This and much more will be discussed on 13 and 14 June in Naples on the occasion of the National Conference of the Italian Society of Pediatric Research. The event, divided into several sessions, will see the presence of specialists from the most qualified research centers used for pediatric pathologies.
“Immune deficiency syndromes are a real emergency because most of these small patients are undiagnosed and suffer from a poor outcome due to the delay in starting treatments – he says. Claudio Pignata, full professor of pediatrics President of the Italian Pediatric Research Society, Department of Translational Medicine, Federico II University -. In order to identify and treat these children in a timely manner, the direct involvement of family pediatricians is crucial. We have a research project, coordinated by Dr. De Giovanni, dedicated precisely to strategies to raise doctors’ attention: early symptoms must be recognized, it is necessary to intervene quickly to ensure that the drugs work properly. “During the two days, post-Covid will also be discussed high-profile scientific projects and interdisciplinary working methods.
“An important news is the results of first pilot study of the Mediterranean diet applied to children, which shows the benefits of this type of diet rich in fruits and vegetables even on the little ones – emphasizes Pignata -. We also focus a lot on the predictions of pediatrics from now until 2050: In the last 30 years, medicine has changed radically. Today, thanks to the acceleration of the knowledge process, the quality of care and the number of patients identified, we expect even greater changes, not only from a scientific point of view, but also from the Italian organizational network. We have an important problem that lies in the public funding of pediatric research, which is far too punitive compared to other areas of medicine. The conference will be the unique opportunity for a comparison with the methods of grants from other countries in the world: in fact, international guests from the United States, Germany and England will be present. As SIRP, we propose the creation of an independent agency that guarantees the correctness of the review process of the submitted proposals. We would like the assessments to be carried out by specialists in the specific sector. It is also important to give a lot of space to the young people and think about turnover in time, because the scientific preparation is very long, it requires at least 10 years of study. For this we try to involve and encourage the ‘new’ pediatricians to take it on. We would like to launch an experimental program dedicated to those with an interest in research, which includes the inclusion of a high-profile scientific path during the course of specialization. “
“It is essential that the institutions recognize the vital role of scientific research, secure funding and support specialists, especially when it comes to pediatrics – he declares Paolo Siani, Pediatrician, Vice President of the Bicameral Commission on Childhood and Adolescence and former Director of the Pediatric Complex Operating Unit at Santobono-Pausilipon Hospital in Naples -. Innovation in this area means looking at the citizens of the future, guaranteeing them good health and never letting their studies stop. Research has had an important development after the pandemic, especially for post SARS-CoV-2 syndromes, which affect even the smallest. For them, SIRP has created a national project, ‘long-COVID kids’. There are numerous other pathologies under investigation. Today, therapies based on biological drugs that are capable of working with precision medical mechanisms are of great interest. Excellent results have been highlighted in the treatment of atopic dermatitis, as highlighted by Prof. Moschese and by some autoimmune disorders and generic diseases such as Pompe and Wilson’s syndromes. For the latter, experimental therapies have completely changed the scenario. “