When we talk about therapies, medications, or clinical trials, most people think of common diseases like Alzheimer’s, Parkinson’s, or diabetes, which affect a large number of individuals worldwide. However, few of us consider a group of much less known pathologies, such as ataxias, cystic fibrosis, systemic lupus erythematosus, idiopathic pulmonary fibrosis, Marfan syndrome, tuberous sclerosis, or phenylketonuria. Many of these names are likely new to most, and that's no coincidence: they are all part of what are known as rare diseases (RD).
Rare diseases are characterized by their low incidence in the population, which means that science and the pharmaceutical industry do not always direct the necessary resources towards them. As a result, many of these diseases remain under-researched and lack effective treatments, despite their profound impact on the lives of those who suffer from them and their families.
In my professional journey, I focused on a specific RD: Friedreich's Ataxia (FA). This disease occurs when mutations happen in the gene that encodes frataxin (FXN), an essential protein for mitochondrial function, particularly for the formation of iron-sulfur complexes. These complexes perform critical functions, including participation in the electron transport chain and prevention of the accumulation of reactive oxygen species (ROS). When this process fails, mitochondria do not produce enough energy, which particularly affects energy-demanding cells, such as neurons and cardiomyocytes. The result is a neurodegenerative disease that impacts both the nervous system and the heart.
FA is also an autosomal recessive disease: for a person to exhibit symptoms, they must inherit the mutated gene from both the father and the mother. This genetic pattern explains its low incidence in the population and, consequently, its classification as a rare disease.
However, the fact that they are rare does not mean they are less important. Researching Friedreich's Ataxia and being in contact with patients allowed me to understand the enormous relevance of raising awareness and studying RDs. Although their prevalence is low, individuals suffering from them have the same rights as anyone else to access diagnoses, treatments, and a better quality of life.
Therefore, the first step is to raise awareness about these diseases in society. Only in this way can institutions, universities, companies, and research centers gauge the urgency of allocating resources for their study. Scientific research should not only be guided by the number of affected individuals but also by the impact it has on the life of each patient.
In short, looking towards RDs is looking towards the invisible: it is opening paths of hope for thousands of people around the world who are currently waiting for solutions. Making the rare visible is an act of scientific and human justice.
By Nicolás Crivaro, Instructor of the Bachelor’s in Biotechnology and Bachelor’s in Bioinformatics at UADE.
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