The corridors of the Pablo de Olavide University of Seville are usually full of students during the academic year, but in the laboratories, the pace of work never slows down. There, Gloria Brea Calvo, a researcher and professor in the field of cell biology, is dedicated to one of the least studied challenges in modern medicine: the study of coenzyme Q deficiency syndrome, a rare disease that affects less than a thousand people worldwide. Specifically, only 600 have been diagnosed.
Brea, whose career began with a deep interest in fundamental cellular processes, has specialized in a pathology that involves great variability in symptoms and considerable difficulties in diagnosis. Coenzyme Q, a key molecule in the production of energy in cells, is at the center of their research. “We are able to make our own coenzyme Q, but at the time we didn’t know exactly how it was done,” recalls Gloria, explaining the origin of her interest in this field. Her work aims to understand how the deficiency of this molecule can lead to failures in different organs, from the nervous system to the heart, affecting a wide spectrum of patients.
The financing challenge
One of the biggest obstacles facing rare disease researchers is funding. In a system where investment is primarily directed towards more common and profitable diseases, funding for rare disease research is scarce. Gloria emphasizes the importance of public funding: “I think from a public perspective, everything is worth studying because knowledge advances society.”
The impact of Gloria’s work is not only measured in scientific publications, but also in the lives of families who have found a glimmer of hope in her research. Gloria tells the moving story of how a Danish family, after losing their daughter to coenzyme Q deficiency syndrome, was able to have healthy children through genetic selection. An achievement that speaks to the transformative power of science when it dedicates itself to understanding and combating rare diseases.
“That’s one of the most heartwarming things about this type of research because the families and the patients are so grateful,” Gloria says. “They’re so grateful because it’s true that we’re not at the point where we can cure the disease yet. It’s so bad that we can’t fix it right now. But for them, just to have a name for it, to know exactly what’s happening to them and even if we can tell which gene they have the problem with, that’s gold because they can give it a name,” he adds.
The problem of late diagnosis
The importance of this research lies in the difficulty doctors have in diagnosing rare diseases, especially those that, like coenzyme Q deficiency syndrome, present such diverse symptoms. The story of Nerea González, a patient affected by this disease, illustrates the challenges of late diagnosis. Nerea began to have health problems at the age of 14, but did not receive an accurate diagnosis until 15 years later. During this time, he consulted numerous specialists, both in the public and private sectors, without obtaining answers. “I lived with a lot of anxiety and uncertainty,” Nerea explains, highlighting the difficulties faced by patients with rare diseases, who are often stuck in a health system that is not fully prepared to identify these pathologies.
Cristina San Martín, mother of a child with coenzyme Q deficiency syndrome, offers a moving perspective on the challenges families face in seeking a diagnosis. “We were transferred from the Burgos hospital to the Niño Jesús hospital in Madrid due to the ineffective control of my son’s epilepsy. There, they finally referred us to the metabolic unit, where they discovered mitochondrial involvement in respiratory chain II, associated with coenzyme Q deficiency,” Cristina explains. Despite the initial difficulty in obtaining a referral, Cristina highlights the significant improvement in her son’s health after starting treatment with ubidecarenone. [la coenzima Q10]However, she regrets the lack of access to specialists in rural areas, which “worsens inequalities in access to diagnoses and treatments for rare diseases.”
The need for public investment
Nerea González highlights the importance of research in this area, stressing that although there is currently no cure for her disease, the coenzyme Q10 supplements, which she must take in high doses, help improve her cellular function. However, she points out that access to this treatment is expensive and is not fully covered by the public system, which represents an additional obstacle for patients. Nerea highlights the need for greater public investment in research, stating that with more resources, many lives could be saved and the quality of life of those suffering from these diseases improved.
Cristina San Martín shares Nerea’s opinion and highlights the importance of public funding. “Without a doubt, funding is the basis and what makes research possible in any field. The fact that this funding is public guarantees quality and stability in carrying out research,” says Cristina.
Research with animal models
The work of Gloria Brea and her team has been boosted by advances in genetic sequencing technology, which have allowed for more accurate and earlier diagnoses. This is crucial in the case of rare diseases, where diagnosis can make the difference in terms of rapid medical intervention.
Currently, Gloria and her team are developing animal models using zebrafish with specific mutations to better study the disease and search for possible treatments. These models are essential to advance our knowledge of the disease, given that the rarity of patients makes it difficult to develop human epidemiological studies.
For now, Brea is continuing his research until funds or financing allow.
