The world symposium on rare diseases arrives in Milan. Doctors and families united to demonstrate that “rare does not mean incurable”
After the success of the first edition and held at the Children’s Hospital of Philadelphia in 2024, the symposium of CHOPS Foundation arrives in Europe for the first time, bringing to Milan for three days an event that brings together researchers, clinicians, patients, caregivers and institutional representatives and the entire community, in the prestigious setting of the University of Studies in via Festa del Perdono.
«The initiative», he explains Manuela Mallamaci, President of the Foundation CHOPS Rare Diseases ETS, «intends not only to shed light on the progress of research for this syndrome, but also on the benefits, in terms of knowledge, that these advances can also bring to other pathologies that are now widespread, both rare and beyond».
Talking about rare diseases today, in fact, is reductive, since it concerns a population that in Italy alone involves over two million people, 70 percent of whom are pediatric, and by extending the benefits of knowledge to other widely spread conditions such as autism and tumors, the usefulness of research taking its course to bring solutions to countless conditions clearly emerges.
Manuela she is the young mother of Mario5 years old, suffering from CHOPS, a very rare multi-organ disease discovered in 2015 by Professor Ian Krantzwhich to date has 40 cases in the world and 4 in Italy, with typical somatic features, physical and cognitive deficits of varying severity. With her husband Giannifaced with the drama of the illness, decided to transform anguish into hope, creating a partnership that stimulated research and knowledge.
The program of the event – scheduled from 29 June to 1 July – is very complex and integrates scientific sessions with international experts in the fields of genetics, molecular biology and translational medicine and activities for the public such as an art exhibition, the screening of a documentary film and other moments of entertainment.
What does the Symposium on Rare Diseases involve?
Opening, Monday 29 June at 5.30pm by Filomena Cataldo, trainer, cultural project and disseminator of the Third sector.
The medical interventions will be dedicated to the most recent scientific results on CHOPS syndrome and other rare diseases, also becoming an important moment of updating for family doctors, paediatricians, specialists and researchers.
Two moments of public engagement: for the first time in Italy the show international Beyond the Diagnosiscreated by the US non-profit Beyond the Diagnosis in collaboration with the CHOPS Foundation, will bring a selection of 20 intense and deeply human portraits dedicated to children and young people with rare diseases, helping to offer an inclusive and person-centred perspective.
Next to the exhibition, the screening of documentary Raredirected by Lainey Moseley And John Bederwhich tells the story of those families who, in addition to facing a complex diagnosis on a daily basis, courageously commit themselves to the search for targeted therapies, actively contributing to scientific progress.
Dr. will also be connected from the United States David Fajgenbaumdoctor and researcher among the protagonists of the film, known for having developed a therapy that saved his life from a rare disease (Castleman), now involved internationally in the development of new treatments through the reuse of existing drugs and the use of advanced technologies.
«This symposium», adds President Mallamaci, «is born from the desire to create concrete connections between research, clinics, institutions and families, giving continuity to the international coordination built by the CHOPS Rare Diseases Foundation since its inception and encouraging new scientific synergies. As a mother and researcher, I fight every day to demonstrate that rare does not mean incurable: today advances in diagnostics and therapies show us that accelerating research is possible and can change people’s lives, even in the rarest and most complex conditions.”
