Advances in research into rare genetic diseases

Advances in research into rare genetic diseases

Research into rare genetic diseases is critical because of two major problems, due to their low incidence (less than one case per 2,000 people): more than 43% of patients lack the appropriate treatment (sometimes due to lack of knowledge), and a significant percentage cannot access medication.

It's no secret that the lack of financial support for research into rare genetic diseases has been an added challenge for families. Therefore, when we talk about progress, we can't limit ourselves to purely technical issues, as that would be unfair. Adopting a strategy at the state or community level to increase research is crucial, which is why we also address it.

Advances in research can be classified as follows: firstly, therapeutic advances ; the second possibility is the use of new technologies and, on the other hand, the improvement of collaboration. The idea is to provide answers both in detection and treatment, without forgetting the latter. Advances in genetic research . Take note:

1. Therapies: CRISPR, ASO and Adenovirus

The gene therapies They provide a new research paradigm for better treating rare diseases. Not surprisingly, genetic factors are of enormous importance, and several treatment alternatives are emerging. We highlight these:

• CRISPR Therapies: Gene editing therapies involve extracting the damaged portion of the DNA chain, modifying it with a perfectly good one, and then assembling it. Once the damaged portion is precisely identified, this could reverse the effects of numerous rare diseases. However, it is still in the experimental phase. One example is gene therapies with adenoviruses, which would fulfill this function by modifying the defective DNA.
• ASO Therapies: ASO therapies, also known as antisense therapies, are oligonucleotide drugs that block the generation of disease-causing proteins. They work with chains of 8 to 20 nucleic acids that silence the messenger RNA that, along with the protein, causes the disease. Applied properly, this method can cure numerous rare diseases or, at the very least, alleviate symptoms.

2024 is proving to be a year of introduction for these new technologies, which in many cases can provide solutions for rare diseases. It should be noted, however, that there is still significant room for improvement, but therapies with varying success are already being applied for muscular atrophy, retinal dystrophy, and other neurological diseases.

2. Genetic database histories

The genetic database histories It is another very useful element for tracing the causes and origin of a rare disease. In fact, if the incidence is higher in one group or family than in another, this can shed light. Given this, the main problem that arises is the management of the disease. Data Protection, But in any case, these information banks, as long as they comply with the legislation, can be of great help. The trend is for this issue to be studied increasingly through genetic testing volunteers.

Furthermore, if all this information is available, comparisons can be made and new markers can be discovered. Precisely for this reason, the more detailed we are about an individual's genetic history, the better. This work is being done gradually and is expected to yield more results in the coming years.

3. Research into rare genetic diseases: using artificial intelligence

The use of the artificial intelligence It is especially interesting, both in the diagnosis and treatment of rare diseases. For example, we can talk about tools for  AI (Artificial Intelligence) These are used to analyze genetic sequences and check for any modifications or variants that could cause a disease. All of these elements have a significant influence when making decisions.

Let's remember that certain variants don't necessarily mean there are rare diseases. But their incidence can be used to analyze the likelihood of developing that condition. Therefore, the use of AI greatly helps with fine-tuning. Ultimately, anything that helps improve detection using available information is positive.

4. Improving professional collaboration networks

The improvement of professional collaboration networks is another of the most important advances. Through the CSIC (Higher Center for Scientific Research) or CIBERER (Biomedical Research Network Center for Rare Diseases) has worked to identify new genetic variants and mutations related to the development of rare diseases. In this regard, we cannot underestimate the collaboration between the various universities.

These networks allow for the exchange of knowledge and, thus, research. While this is important for all types of diseases, it takes on a special dimension when it comes to rare diseases. In recent years, there has indeed been a significant increase in information exchange.

5. Involvement of public administrations

The involvement of the public administrations This is another of the innovations and advances in rare disease research. This is achieved in two ways: first, through the creation of specific research organizations; and second, through the launch of orphan drugs that address these conditions (today, more than 147 are registered in the European Union).

One of the major problems with these diseases lies precisely in the fact that researching them is often unprofitable. Therefore, this is where the work of public administrations becomes necessary to fill the gaps left unfilled by private initiatives.

In summary…

Research into rare genetic diseases is advancing thanks to new technologies and a better understanding of the human genome. Would you like to take a genetic test to rule out potential problems for you or your offspring? At Genotica, you'll find a directory with different options. Get to know us . and we will inform you!