66% of patients with rare diseases do not have access to effective treatment.
In healththe total number of existing diseases It is an aspect that on more than one occasion has been deliberate. Research published in the scientific journal Science Direct and shared by the Rare Diseases and Orphan Drugs Group of the Spanish Society of Hospital Pharmacy (SEFH) defends the incorporation of a new term known as the hyper rare diseaseswhich come to affect less than one person in between 100,000,000 individuals. This contribution linked to this group of diseases is due to the fact that they probably represent a very large group of disorders of future prevalence unknownhaving implications for the concept of precision medicine.
The average human genome is estimated to contain 100 loss-of-function variants con 20 genes completely inactivatedand many of them never cause disease, as exemplified by those related to olfactory reception. In relation to the concept of precision medicine, researchers at the Center for Innovative Medicine and the Swedish Cancer Society They believe that as diagnostic advances continue, the number of definable disorders may continue to increase to the point where sometimes it is the idea of common diseases that needs to be questioned.
A crucial aspect for infections, as well as for diseases induced by toxins o allergens, is, according to the study, the number of entities to which someone is exposed. The human salmonellosis is an infectious disease that is highly prevalent in certain geographic regions, but rare in others, which contributes another component to the classify diseases as rare o common. Because of this, the view is defended that various forms of this interaction are likely to apply for rare infections as well.
Las genetic variations they are also an element that produces a distinct phenotype, generating diseases that are difficult for doctors to diagnose. Many of these variations can not be individually rarebut at the other extreme, there are numerous polymorphisms that are extremely rare.
Consanguinity, linked to hyper-rare diseases
The final observations highlighted by the research defend that there are numerous causes of diseasemany of which are very rare, and it is proposed that together they correspond to a very large number of disorders, much larger than the commonly used estimate of 10,000 rare diseases.
In this perspective, it is suggested that the number of diseases known as common, rare o ultra rare must be complemented with those that are hyper rare. On the other hand, it is also possible to talk about the consanguinitywhich profoundly increases the probability of finding certain hyper-rare diseases geneticallywith disorders that differ even between siblings, due to the greater number of unique sibling combinations of multiple variants that result in phenotype conversion.
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