The term "rare" applies to those diseases affecting a limited number of people with a prevalence below a given cut-off point, which is codified by the legislation of each individual country.
The EU sets this threshold at 0.05% of the population, i.e., when it affects less than 1 in 2,000 inhabitants, while a disease or disorder is defined as rare in the USA when it affects fewer than 200,000 Americans at any given time. There may be as many as 6,172 rare diseases.1,2
Relatively common symptoms can hide underlying rare diseases leading to misdiagnosis and delaying treatment, and they are often chronic, progressive, degenerative, and frequently life-threatening.2
The lack of scientific knowledge and quality of information on the disease often results in a delay in diagnosis. Moreover, it is equally difficult for patients to access effective treatment and receive social and medical care for the disease. This often results in a heavy social and financial burden on patients.3
This is why we focus on treatment and assistance for rare disease sufferers; our commitment concentrates in this field as we believe this therapeutic area to be of great importance and social impact.2,3
We are dedicating our efforts to some main areas: Lysosomal storage disorders (LSDs), Rare Hematology and Rare Ophthalmology.
Patients have been at the center of what we do for decades.
1. Genetic and Rare Diseases Information Center, National Institutes of Health, https://rarediseases.info.nih.gov/diseases/pages/31/faqs-about-rare-diseases. Last accessed: December 19, 2019.
2. Nguengang Wakap S, et al. Eur J Hum Genet 2019.
3. Gainotti S, et al. Int J Environ Res Public Health. 2018; 15(10): 2072.
