It is estimated that more than 300 million people -around 6-8 % of the world's population- suffer from a minority disease. For 95 % of these illnesses, there is no approved specific treatment.
There are over 6,000 rare diseases, more than 80 % of them genetic in origin. Two out of three appear before the age of two; one in three patients suffers from motor, sensory or intellectual impairment, and one in five from chronic pain.
These are very diverse disorders that affect different organs and body systems, causing intellectual or physical disability that often restricts the patient's quality of life due to loss of autonomy or even death as it is impossible to administer any suitable treatment.
Because they are so rare in the population, affecting less than 5 per 10,000 inhabitants, it is very difficult for medical professionals to diagnose them. And, also because of the low incidence and great diversity of these pathologies, many of them are so-called orphan diseases, that is to say, there is no treatment specifically designed and no effective therapy available for them.
Which rare diseases have specific treatments at present? What exactly is an orphan disease? What is considered compassionate use? Are compassionate uses common in cases of orphan diseases? What are the main barriers to research and innovation in these disorders? Why is investment in research into rare diseases so urgently needed? What are the likely pathways for these patients in the health system? Do they suffer from long delays in diagnosis?
Doctors Lapunzina and Martínez are currently working on various research projects focusing on rare diseases, such as overgrowth syndromes and vascular malformations. What do these projects consist of?
Pablo Lapunzina, Head of the Research Group at the Institute of Medical and Molecular Genetics (INGEMM), Hospital La Paz University Research Institute (IdiPAZ), and Scientific Director of the Biomedical Research Networking Centre for Rare Diseases (CIBERER).
Víctor Martínez González, researcher at the Institute of Medical and Molecular Genetics (INGEMM), Hospital La Paz University Research Institute (IdiPAZ), and at the Biomedical Research Networking Centre for Rare Diseases (CIBERER).
Noemí Gómez, head of the Science section of Agencia EFE.