Scientific advances in the treatment of rare diseases
What we mean by rare diseases
The concept of a rare disease is subject to debate, primarily when it comes to determining the population standard for considering it as such. And, in fact, this varies depending on the territory.
In the European Union and the World Health Organization (WHO), it is considered rare disease that which occurs in One in every 2,000 individuals , at least. The case of the United States is different, because the scale is taken in absolute terms, taking into account the country's population: a rare disease is one that affects fewer than 200,000 people in the country. It is common to perform genetic tests precisely to rule out the existence of these diseases. rare ailments in certain groups.
In both cases, these scales emphasize one thing: their low incidence. And this is no small matter, given that it provides data to researchers and administrations to increase the resources needed to treat them. Hence, any scientific advances that may occur are especially relevant.
Major scientific advances in rare diseases
The orphan drugs They are one of the main elements of treatment for rare or uncommon diseases. However, these have been in development for decades. Furthermore, it should be noted that many of these diseases have a genetic basis, hence scientific advances are closely related to this aspect. We can point out the changes of the last decade; take note of these points:
1. Gene therapy of modified viruses and genes
The first studies of viral gene therapy Modified viruses are quite old, with cases dating back to the 1970s. However, in recent years, a qualitative improvement has been achieved thanks to the modification of viruses, reducing their load so they don't cause the disease. This allows the body to generate antibodies.
The gene therapy of modified proteins by transfer It allows, precisely, the introduction of this new genetic material. Thus, a copy of the healthy gene is introduced, which will allow its replication and, thus, promote healing. For this reason, it's an option that works reasonably well. The novelty is that new possibilities are being incorporated to reduce possible side effects.
2. CRISPR gene editing therapy
The CRISPR gene editing therapy It's much more recent, having been studied in the late 1980s. It basically involves cutting out a defective portion of a DNA strand and replacing it with a perfectly good portion.
Right now, some experimental treatments using the CRISPR technique have already begun, thanks to the availability of resources. We can take, for example, sickle cell anemia and beta-cell anemia. Thalassemia . In the United Kingdom, the public medicines agency approved treatments for beta-thalassemia in 2023. And everything seems to indicate that other countries will gradually approve these treatments for specific conditions.
Undoubtedly, the practical applications of these treatments are diverse. In any case, in cystic fibrosis, Pompe disease, epidermolysis, Huntington's disease, Rett syndrome, and HIV, we are talking, above all, about a potential for research. Thus, if the damaged part can be eliminated, the possibility of replication would also be eliminated.
In any case, gene editing, through sequence repair, is a turning point. And we can expect that, in a few years, this technique will become widespread in some more cases.
3. Improvement in early diagnosis
One of the important points that have helped a lot in rare diseases is that of Early diagnosis . And this is no small issue, given that genetic tests provide this information, from before conception, during pregnancy, or in newborns. For example, the heel prick test has become widespread.
Likewise, the artificial intelligence (AI) It has served to facilitate the diagnosis of various diseases. And it does so thanks to the intensive use of data, which allows, in one way or another, to provide greater accuracy. Not surprisingly, thanks to comparisons, it is possible to achieve much more precise results. Hence, today, it is a very interesting alternative. It is important to note that speed has also been increased, thanks to the capabilities of AI itself.
On the other hand, the early diagnosis has also improved thanks to the Genetic sequencing . One of the problems, until the beginning of the century, was the lack of knowledge of the entire genome. Now, thanks to computing, it's also possible to locate complete sequences, which represents an improvement.
4. Use and sharing of data
Rare diseases require, more than in other cases, the sharing of knowledge about advances and research. And in this sense, we can say that, fortunately, there has been progress, and for the better.
The creation of State coordination centers , for example, have been a point in favor of research. In Spain, there is the The Biomedical Research Network (CIBERER) has helped achieve these results. There are also European and international leaders involved in this work: EURORDIS and Horizon Europe , in Europe, and the Global Rare Diseases Registry , at the international level. Finally, we must highlight the coordination efforts of university centers to share knowledge.
This greater ease also has to do with the ease of connections. Thanks to this, it's much easier today to share advances and, thus, infer new therapeutic possibilities.
Therefore…
Advances in rare diseases mean that some conditions that had a short life expectancy and severe symptoms can now be treated, either fully or partially. Do you want to check if you are a carrier or if you have a risk of having rare diseases with your offspring? The Genotics It helps you clear up any doubts and assess risks. Learn more!