The notion that the study of rare diseases sometimes tells us more than that of common ones is not new, and dates back as early as 17th century, as we learned from a famous letter of William Harvey to a Dutch physician. This is particularly true in the field of kidney diseases. During the last few years we have witnessed a tremendous increase in knowledge of the genetic nature of a number of rare kidney diseases. The investigation of the role of genetic disruption at the basis of pathological processes in the kidney has helped not only in understanding these disease states but also has high-lighted developmental issues, and revealed novel insights into kidney function. By organising the Focus on Fabry Nephropathy: Biomarkers, Progression and Disease Severity as an Official Satellite of the World Congress of Nephrology, we have aimed to bring together research geneticists, nephrologists and clinicians, and experts from related specialties. The format of the conference is focussed to provide a cutting edge view of the field and to stimulate discussions, novel insights and consensus positions. The conference speakers will cover a variety of aspect of Fabry Nephropathy: natural history, factors that drive progressive loss of kidney function and responses to therapy, biomarkers for understanding the progression of disease and response to therapy, special issues for pediatric patients and patients on dialysis or with transplantation, pathology of Fabry nephropathy, and developing treatment options for Fabry Nephropathy. The plenary invited lectures include Professors Giuseppe Remuzzi (Molecular Basis of Glomerular Permselectivity and Proteinuria), Barry M. Brenner (Fetal Origins of Kidney Disease in Adults) and Christof Westenfelder (Stem Cell Therapies for CKD. Of special note will be concurrent workshops organized by Adeera Levin that will address: Biomarkers of Fabry Nephropathy and Progression; Enzyme Replacement Therapy; Dialysis and Transplantation in Fabry Patients; and Children with Fabry Disease which we intend to publish as consensus statements after the conference. All of the presentations, and the incomparable venue provided in Bergamo will ensure a very successful meeting.
David Warnock and Christoph Wanner