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 three rare diseases: Leber hereditary optic
neuropathy (LHON).
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
