Rare diseases are also known as minority, low-prevalence and other terms that ultimately include a considerable population group and a heterogeneous and wide number of pathologies, which despite being so, they do share a number of characteristics derived from their low prevalence.
There are between 6,000 and 8,000 rare diseases, which in Spain alone affect more than 3 million people. Only about 500 of these rare diseases have an approved treatment. This means that patients that suffer from any of them are not properly cared for, situation is even worse when 75% of people affected by rare diseases are children, which has a devastating effect on their hope and quality of life.
One of the characteristics common to many rare diseases is the great morbidity-mortality associated with them, which has a high impact both at the level of their family and social environment.
One of the aspects within the comprehensive approach to rare diseases is their research at all levels, from prevention to diagnosis and finally to treatment. Rare diseases require a multidisciplinary effort and coordination between different specialists, from healthcare professionals to administrations and the pharmaceutical sector.
Over the past two decades, multiple challenges have been addressed around rare diseases, at all levels, with the great advances in genomics, information and communications technology and the methodology of massive data analysis , identifying aspects that have helped advance knowledge of the natural history of rare diseases, their epidemiology and their best therapeutic approach.
There is still a way to go to help improve the lives of people with these rare diseases and their families.
Author: Aurora Berra is Patron of the Foundation29. She is also CEO of SOBI Iberia