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Patients affected by so called rare diseases should be able to receive appropriate diagnosis, high quality service, treatment, and support.

Most rare diseases are genetic, and thus are present throughout the person’s entire life, even if symptoms do not appear immediately. Therefore, an early diagnosis is crucial for the prompt and effective intervention.

Nowadays, thanks to the enormous progress in the field of medical genetics, identification of disease-causing genes and their abnormalities became a routine and effective diagnostic procedure. This is also true for the rare genetic diseases with a manifestation of a prominent renal phenotype.

The main aim of the conference is to shad light on renal genetic and rare disorders as well as to explore “bench-to-bedside” approach, which translates recent genetic and molecular discoveries into clinical settings. In order to create a multidisciplinary platform we assembled an outstanding and highly qualified faculty composed of expert geneticist, molecular biologists, chemists, physiologists, and clinicians. Taking as a whole, the conference will highlight that a deep understanding of mechanisms behind rare renal diseases leads to better identification of basic mechanism governing renal physiology and pathophysiology.

Prof. Giovambattista Capasso
President of the Conference

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