World Day of Rare Diseases

• April 16, 2024

The Institute of Medical and Molecular Genetics (INGEMM) of the University Hospital La Paz, in Spain was inaugurated today, by the Minister of Health, Javier Fernández-Lasquetty, center that will assist patients with more than 350 rare diseases base genetics. The inauguration coincides with the World Day of Rare Diseases.

The investment of the Institute required 7.5 million euros and has allowed grouping into a single site different sections and services in the field of genetics. With its inauguration it is intended to offer a integral solution to genetic diseases , which are responsible for 70% of the income in children's hospitals and 95% in the case of chronic diseases .

The last weekend of February is celebrated on World Day of Rare Diseases , which are considered as those whose frequency in the general population is extremely low, have unknown pathologies in the medical community, health authorities and in the population.

It is estimated that 8% of the population over 25 years old is affected by some disease of genetic origin and in the European Union it is the second cause of infant mortality, after accidents.

The ailments usually have serious physical and psychological consequences in those affected, however there are few specialists worldwide that are dedicated to studying them at the genetic level.

There are between 5 thousand and 8 thousand rare diseases that affect approximately 250 million people in the world. That is why efforts should focus on the research, development and commercialization of therapies to find out the root causes and find cures to diseases such as Fabry disease, hereditary angioedema, Hunter syndrome, Gaucher disease, sclerosis Amyotrophic lateral, among others.

Some organizations and initiatives that support the cause are:

- Brave Community

- The Global Genes Project

- FEDER (Spanish Federation of Rare Diseases)

Source: ABC.com, Europa Press and El Informador.