Healing from a laboratory

Today, Gloria is an expert in gene therapy. "It's about using genetic material as a drug to cure diseases," she explains. And she soon realises that it sounds a bit far-fetched. He adds: "When you want to treat a disease you have to go to its cause in order to provide a solution. What do you do to treat an infectious disease? You remove the pathogenic agent: the virus or bacteria that causes it. And what do you do to treat a tumour? You eliminate it. In the case of genetic diseases, their cause is in the genes, so you have to act on them in order to cure them.

Gloria is deputy director of Cima and, for the past year, has been coordinating the research line on Rare Diseases in the University's Strategy 2025. These pathologies, as defined in Europe, are those that affect 1 person in 2,000, and most of them usually have a genetic origin. But although each individual disease is suffered by a very small number of sufferers, collectively more than 300 million people in the world suffer from a rare disease. "And possibly these numbers are not real because there are many people who will never be diagnosed because they do not have access to, for example, a genetic diagnosis," says Gloria.

In recent years, the advances that have made possible the knowledge of the genetic content and the development of the technology needed to access this information have brought about a major change in the way Rare Diseases are diagnosed and treated. "The diagnosis of these pathologies has changed enormously since we became aware of the human genome. Knowing the entire DNA sequence contained in our cells has allowed us to identify the elements that play a role in their correct functioning, and also to know what diseases they give rise to when they fail," says Gloria. "Technology has also advanced at breakneck speed. In the beginning it took months to know the DNA sequence. It even took years to decipher the first chromosomes. Today, however, it takes no more than a week to know a person's entire genome," she adds.

Within the framework H2020 Programme, the European Commission promoted a strategy with the goal to develop new diagnostic methods and new treatments for Rare Diseases. This momentum will continue with the new framework Horizon Europe Programme, which also envisages greater patient participation in decision-making and in the development of projects. "At the European level, there are many organisations working on Rare Diseases," says Gloria. "In Spain, there are also several groups, included in a cyber-group of high school Carlos III, working at the clinical level and at the level of research, both at the basic level, knowledge of the mechanisms, and at the level of development of new therapies. We are also working on these two levels at the University," he adds. When talking about the Clinic's work in genetic diagnosis, Gloria mentions doctors Ana Patiño, Rocío Sánchez-Carpintero and Manuel Manrique, who in their fields are experts in the diagnosis of genetic and hereditary diseases. The other part, which corresponds to the research groups at Cima, is that which tries to understand what is happening in these diseases, at the level of molecular mechanisms, and to provide therapeutic solutions or at least improve the lives of these patients. 

The objectives that the University has set itself in this line are a better knowledge of rare diseases, the development of new therapies and, above all, greater interaction between the different researchers working in this field topic. For Gloria, this is one of the priority objectives: "It is a matter of strengthening, if there are any, or creating new collaborations. The more therapeutic products we can develop, the better; and the more we know about the diseases, the better; but all of this depends on us being able to work in partnership with other groups that provide us with the experience we don't have".

"Although there is a lot of momentum at different levels, the funding that is obtained for research into these diseases, subject , is still small compared to other diseases such as cardiovascular diseases, cancer.... However, the impact that these pathologies have on the individual and his or her family is truly dramatic. Especially because, as they are genetic diseases, you are born with them, so the population most affected are children who, in many cases, do not reach adulthood," laments Gloria. "Research into this subject of pathologies to try to find solutions is important, because although it may seem that they only affect a minority of the population, at a social level the impact is very high. The University has a duty to try to provide solutions and alleviate the suffering of these children and their families. We have to do it because we know how. We have been working on it for a long time, we have the experience and we have highly qualified professionals. So it was clear that Rare Diseases should be a priority line of the 2025 Strategy," he concludes.

Being able to heal people was what led Gloria to study biology and it is what she continues to dream about every day at laboratory. "For me, the most satisfying thing about my work is to think that, one day, what I do may change the life of a person who suffers and their family," she acknowledges. "It is true that many times, just the fact that we are doing research on their disease is a comfort to them. But the day we can cure one of these diseases, it's going to be the bomb. Maybe for a doctor this is nothing, because they do it every day, but for someone doing research at laboratory, it's a dream".