Today, February 28, is World Rare Disease Day.
Rare diseases are diseases of low prevalence in terms of the total population, but which already affect more than 3 million people in our country.
There are an estimated 7000 known rare diseases, approximately 80% of which are genetic in origin. They usually appear in childhood and, in general, the symptoms present in an ill-defined manner, which makes diagnosis and treatment difficult.
We share with you an interview that El Comercio conducted with our head of clinical genetics, Leyre Larzabal, in which she talks about the involvement of genetics, the importance of genetic analysis for a better diagnosis and the existing treatments for these diseases.