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