Research into rare diseases

Rare diseases are becoming a priority for health systems

There are currently estimated to be between 5,000 and 7,000 rare or uncommon diseases—that is, those affecting a small proportion of the population. Prevalence is the main indicator used to determine whether or not a disease is rare. In the European Union, rare disease are those that affect at less than 5 people per 10,000 in the population, and which also are associated with heightened psychosocial risks while lacking cures.

There are believed to be between 27 and 36 million Europeans and 25 million Americans suffering rare diseases. In Spain it is estimated that there is something on the order of 3 million sufferers.

Of rare diseases as a whole it is estimated that 80% affect children, probably owing to their genetic origin, which brings about manifestations at an early age.

Rare diseases are diverse, but they share common circumstances

This group of diseases is characterized by scant biomedical and scientific information. The small number of patients, and their dispersal geographically, means that the diseases are all that much harder to study and thereby increase our knowledge about them.

Another key factor that directly affects the quality of life of the patients suffering these diseases, as well as their families, is the suffering and emotional burden that they carry with them, heightened by the lack of a cure in the case of most of them.

The need of researching is a top priority

Medical and scientific knowledge about this large and heterogeneous group of diseases is sorely lacking. The number of scientific studies about rare diseases continues to grow, especially regarding the identification of new syndromes. Nevertheless, most of the new knowledge is related to fewer than 1.000 diseases, mostly those that occur more frequently among the larger group of diseases of low prevalence.

Research is one of the main elements offering greater hope to the patients in question, which is why at the Sant Joan de Déu Hospital in Barcelona we are on board with this initiative, aimed at increasing recognition of these rare pediatric diseases. Increased understanding and knowledge of a disease is the first step toward developing a treatment for it.