In the DNA of Sardinians a variant that does not predispose to Ankylosing Spondylitis: the international congress in Barumini
Organized by the director of Rheumatology of the Aou of Cagliari, it will host the leading experts on the subjectFifty years ago, experts first identified the HLA-B27 gene as a major predisposing factor for ankylosing spondylitis , the strongest association ever described for any polygenic disease.
In the early 1990s, a variant was identified in the Sardinian genetic heritage. By comparing the "B27" gene (present throughout the world) and the Sardinian variant, a great similarity emerged from a protein point of view but many differences in terms of predisposition to develop the disease. With this discovery, experts believe they can trace the mechanism that causes Ankylosing Spondylitis and, consequently, the general mechanism of susceptibility to immune-mediated diseases .
For this reason, Sardinia and in particular the town of Barumini was chosen as the venue for the celebration of the fiftieth anniversary of the first report in the literature of the association of the HLA-B27 gene with Ankylosing Spondylitis.
The international congress with the most illustrious world experts on the subject will be held on Friday 30 June in the congress hall of the Nuragic site. The event is organized by Alberto Cauli , director of Rheumatology at the University Hospital of Cagliari and full professor of the Faculty of Medicine at the University of Cagliari. Cauli and his team have been engaged in research for many years to discover the mechanisms underlying this important inflammatory pathology of the spine.
Since its first reporting in the prestigious journals "The Lancet" and "New England Journal of Medicine" in 1973 (precisely 50 years ago), the subject has constantly attracted the attention of biomedical researchers because, being the strongest association never described in medicine for any polygenic immune-mediated pathology, could, if clarified in its pathogenetic details, constitute the key to understanding not only arthritis but all other immune-mediated diseases such as diabetes, multiple sclerosis, Crohn's disease and many others.
The works will be introduced by Professor Alberto Cauli and Professor Désirée van der Heijde , of the University of Leiden in the Netherlands, with a lecture on the historical and clinical evolution of the concept of Ankylosing Spondylitis, even in its early forms. A session on the multiorgan implications and the contribution of modern imaging techniques in the definition of the disease will follow, with speeches by professors Ciccia (Naples), Baraliakos (Bochum, Germany) and D'Agostino ("La Cattolica", Rome).
In the afternoon, the three currently most accredited pathogenic hypotheses will be explored with the interventions of prof. Maria Teresa Fiorillo ("La Sapienza" Rome), prof. Robert Colbert (NIH, Bethesda USA) and Prof. Paul Bowness (Oxford, UK). The day will be closed by speeches by Prof. Dafna Gladman (Toronto, Canada) and Prof. Denis Poddubnyy (Berlin, Germany) who will summarize the results of two international multicentre studies on the subject which also see the participation of the major Italian centres.