UNR provides support to families, promotes scientific research and increases awareness of these diseases. 

Every February 28th, Rare Disease Day (EPOF) is commemorated with the aim of raising awareness of these diseases, given that they represent a challenge for those who suffer from them and their families. These are pathologies whose prevalence in the population is equal to or less than one person per 2000 inhabitants. In our country, they affect 3,6 million people, which represents one in every thirteen.

They are chronic, complex, progressive, disabling and, in some cases, potentially fatal diseases. Seven out of ten have a genetic origin, 70% manifest at birth or during childhood and 3 out of 10 children will die before reaching the age of five. However, as knowledge is still very recent and is not widely available in the health network, obtaining a quick and accurate diagnosis as well as adequate treatment is difficult. The lack of information, resources and emotional support worsens the situation.

The biggest challenge is to reach an accurate diagnosis. This can take between five and ten years and require up to eight visits to different specialists before obtaining it. As a result of the delay in diagnosis, 35% of people do not receive support or treatment, 31% experience a worsening of the disease or symptoms, and 23% do not receive adequate treatment. In addition, people living with these types of diseases require care that includes both specialized clinical care and social services and psychological support for the patient and their family, under comprehensive and coordinated care.

In this context, the area of ​​Science, Technology and Innovation for Development and the Health Center of the Universidad Nacional de Rosario  Last year, they launched a comprehensive program to address rare or infrequent diseases with the aim of providing support to families, promoting scientific research and increasing the visibility of these diseases. The program hopes to improve the quality of life of those who suffer from these diseases and move towards a future where everyone has access to the care and support they deserve.