2023-11-14 16:53:37
The XIII National Congress of Simmesn, the Italian Society for the study of hereditary metabolic diseases and neonatal screening, opens tomorrow in Verona. “Hereditary metabolic diseases, transmitted to children by often unaware parents – states Giorgio Piacentini, president of the Congress and full professor of Pediatrics at the University of Verona – are very complex pathologies that involve the main processes that allow cells to live and from this one can already understand how serious and devastating they can be. In recent years, important progress has been made and, thanks to research and the alliance between parent associations, scientific societies and research institutes, a change considered epochal is underway, not only in diagnosis, but also in the treatment of these pathologies”.
An epochal change which – Simmesn underlines – makes the congress a particularly central event with respect to the possibility of offering scientific clarity and clinical certainty to the many Italians seeking support for their parenting journeys. In fact, neonatal screening plays a key role, a biochemical test that allows the identification of various congenital diseases in the newborn which, if not diagnosed and treated promptly, can cause mental and/or growth retardation, serious permanent damage and in some cases death. .
The conference work will be divided into 3 days divided into 6 plenary sessions during which, Piacentini anticipates, “we will talk about the very current frontier of extended neonatal screening, new drugs, metabolic cholestasis, intracellular trafficking diseases, adrenal hyperplasia congenital, sugar metabolism diseases and also the delicate topic of palliative and end-of-life care. Alongside the interventions of speakers of national and international importance and caliber, the congress – underlines the president – aims to reserve more time both for the sessions thematic plenaries, and to give ample space to the oral communications of young researchers with the awarding of prizes for the best works. Objective: to always create new interest both at university and hospital level in young people, bringing them closer to the study, research and treatment of these difficult and complex pathologies”.
Simmesn – recalls a note – was born in 2008, following the merger of previous medical-scientific companies. Today it has 266 members with an average age of 46 years, 3 quarters of whom are women, operating in various contexts and organizational settings: clinicians with specific metabolic skills, paediatricians, biologists, laboratory technicians, dieticians and psychologists.
“We are a scientific company that deals with rare diseases, which as a whole too often prove not to be well enough known by doctors to be diagnosed and not sufficiently treated in time – declares Andrea Pession, Simmesn president and Alma Mater professor at the University of Bologna – This is why we are today a company of enormous interest and great relevance for public health. Marcello Cattani, president of Farmindustria, will update us on the research into new drugs for rare diseases and their sustainability for the national health system. We will also of artificial intelligence applied to medicine in its most noble and ethical aspects, with the Italian naturalized American physicist Federico Faggin. We will also talk about pediatric diseases and palliative care with Stefano Canestrari, member of the National Bioethics Committee, who will explain to us what can and what should be done in the case of complex chronic diseases in children”.
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