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INTRODUCTORY NOTES
Since the description of a syndrome of X-linked intellectual disability associated with a cytogenetic fragile site on the distal long arm of the X chromosome 56 years ago, Fragile X Syndrome still represents a unique and demanding challenge for basic scientists as well as clinicians. Still a lot needs to be understood regarding the involvement of the responsible gene, the FMR1 gene, in normal brain development and function and, more importantly, the genetic alterations which can become druggable targets. Much also needs to be done to advance our clinical understanding of the Fragile X Syndrome.
In fact, few doctors have specialized knowledge of this disease and still fewer are located in centers of excellence for the care of these patients within institutions capable of providing effective, efficient and comprehensive care and follow-up for the affected patients and their families. As a consequence, it is still a priority to create opportunities for scientists and clinicians to meet together and to share data and experience and ideas and models on how to best respond to the needs of the affected patients and their families.
Padua, thanks to an intimate relationship between its University and its great Hospital, led by an outstanding clinical scientist, the late prof. Alessandra Murgia, adds its name to the centers in the world that have made a significant contribution to increasing our knowledge and our ability to provide quality care for the patients affected by the Fragile X Syndrome. We all recognize the importance and value of bringing together basic science, clinical research and clinical care within the “Fragile X community” and are taking this opportunity to also celebrate the contributions of Prof. Alessandra Murgia by inviting you all to be with us on June 20th of this year here in the unique setting of this more than 800-hundred-year-old University.
