Course Description
Rare diseases affect a small number of people compared to
the general population, but there are six to seven thousand
rare diseases that have been discovered, and new diseases
are regularly described in medical literature.
Not all rare diseases are genetic, but often are serious, chronic, and progressive. For many rare diseases, signs may be
observed at birth or in childhood. However, over 50% of
rare diseases appear during adulthood.
The field of rare diseases suffers from a deficit of medical
and scientific knowledge. For a long time, doctors, researchers, and policy makers were unaware of rare diseases
and until very recently there was no real research or public
health policy concerning issues related to the field.
The aim of this course is to focus attention and increase
knowledge on Nephropathic cystinosis. Due to the lack of
sufficient scientific and medical knowledge, many patients
are not diagnosed, and their disease remains unidentified.
The course will help doctors in disease diagnosis, in addressing the best therapies today available and in the management of affected patients.
