Advances in research into rare genetic diseases

The latest advances in research into rare genetic diseases

The consideration of rare genetic diseases, in demographic terms, will depend on each country. In any case, we will take as a reference the criteria of the European Union, which uses this nomenclature for those diseases of genetic origin that affect a ratio of less than 1 person in 2,000 . Although this nomenclature varies in other countries and geographical areas, it is enough to give us an idea.

What is the main problem we face when we talk about rare genetic diseases? The lack of incentives for research by the private pharmaceutical and medical industries, especially regarding treatments. Therefore, we are faced with a situation in which the importance of the public sector is greater than in other areas.

In recent years, there has been a significant increase in research advances to reduce this gap. And it's happened in several ways, through techniques, but also through synergies. Let's see:

1. Discovery of new disease-causing genes

The discovery of new genes is one of the key points in improving research. And, in 2023, they were located. 120 new genes of 2,000 rare diseases . With this information and identification, it's easier to propose treatment alternatives. Therefore, it's a significant improvement in making diagnoses more accurate.

Clearly, this is a dynamic and ongoing process. As larger volumes of information are handled, it becomes more likely to find new applications or matches. And, year after year, the number of equivalencies increases because there is more information available to compare.

2. Using AI to diagnose rare genetic diseases

The AI for diagnosis The use of rare disease detection is increasingly being used in various fields, using multi-layer networks and other technologies. This is one of the disruptive technologies for diagnosis.

It can be combined with systems biology, which provides intensive analysis of a large amount of biomedical data from groups. It should also be noted that, thanks to the 3D printing and to 3D scanner , diagnostic accuracy is increased. All of this is also achieved in combination with the Big Data , which allows you to compare other patterns.

As long as confidentiality and data protection are respected, it has served to increase research and diagnosis. The trend is for AI to play an increasingly important role in these types of issues.

3. More accurate genetic sequencing

The Genetic sequencing : the more accurate it is, the better. The decoding of the human genome was a turning point, but the discovery of DNA fragments, previously considered "junk," has also helped us understand how these disorders function. As parts of genome sequencing become clearer, the diagnosis becomes more accurate, even for rare diseases.

The gene therapies They are also simpler because sequencing techniques have improved. This allows for greater accuracy and, in the case of rare diseases, makes it more feasible to develop therapeutic approaches. Here, we cannot ignore the contribution made by certain diagnostic technologies, because otherwise, it would not be possible.

4. CRISPR gene editing technique

The CRISPR gene editing technique is from A recent discovery , but it has recently gained importance in the treatment of rare diseases. Once the disease-causing genes are sequenced and identified,

Specifically, there have been cases, such as thalassemia and sickle cell anemia, where this system could work by modifying the genome. And the idea, with base editing, is to expand the targetable diseases to cure them. The CRISPR technique has numerous applications, but it would be especially interesting as an option for rare diseases.

However, it should be noted that the CRISPR technique It still has a very long development path. And the reality is that it's mostly in the experimental stage. We'll have to wait a few years for these techniques to be widely implemented.

5. Shared registry of patients with rare diseases

He patient registration With rare diseases, sharing is important, as it can reveal what the critical mass is and whether there is any progress in this regard.

Likewise, and as long as privacy is preserved, it is a method for discovering patterns and treatment possibilities. Perhaps, if successful treatment cases are known, and in the appropriate percentage, hypotheses or new options can be introduced. In this sense, there is indeed greater involvement from the scientific community in exchanging information and, what's more, in collaborating together.

In short, the joint records They are a very useful way to learn how these conditions can be treated. And the trend is toward sharing these databases among professionals.

6. Extension of orphan drugs

The orphan drugs They are the main alternative for the treatment of rare diseases. And, in this case, we have to say that it's a real necessity. Not surprisingly, the pharmaceutical industry is generally not interested in researching these drugs due to their limited profitability.

In recent times, they have even been launched 17 new orphan drugs thanks to the public initiative. We cannot fail to mention the work of the CIBERER (Biomedical Research Network Center for Rare Diseases), which has helped sponsor these types of drugs. Not surprisingly, without public funding, they would be unlikely to succeed.

Here's an example of how public administration can provide solutions. These orphan drugs, if properly validated, are a solution for treating diseases.

In summary…

Although work on rare genetic diseases is complex, there are new developments and advances that give us optimism. Do you have questions and want to take a genetic test to clear them up, or simply to find out your genetic predisposition? Genotica has a comparison tool with numerous options classified by test type, price, complexity, and delivery time. Contact us !