About the book
A rare disease also referred to as an orphan disease, is a disease affecting a low percentage of the population. It is estimated there are about 300 million people worldwide are affected by Rare disease. Most Rare diseases are genetically based, presented in early life, with chronic phase but frequently progressive, disabling and life-threatening. About 30% of suffered children will die at five years old.
Although there are some definitions about Rare diseases based on the number of people living with disease including several factors such as the existence of adequate treatments or the severity of the disease, unfortunately, there is no single, widely accepted definition for Rare diseases up to now. Evidences and facts from the accumulated indicate that Rare diseases are not uncommon. The most accepted definition is no disease is Rare when it affects someone you love.
The studies on Rare diseases are the hallmark of a genetic era in medicine from clinical symptomatic to pathological aetiology phase. About 7000 Rare diseases have been so far identified for the determination of their molecular aetiology.
Knowledge and experience obtained from the studies on Rare diseases not only increased our understanding of the correlations between phenotype and genotype but also have been enlightening the other areas particularly in personalized medicine in the translating into therapies.