The importance of biomedical and biotechnological research to find treatments for neglected diseases

On the occasion of the Neglected Tropical Diseases World Day, Jordi Duran, PhD (IQS Barcelona - Ramon Llull University), analyzes the importance of finding effective and safe treatments against neglected diseases.

Disease is an inherent condition of life. Often, when we are fortunate enough to enjoy good health and have no loved ones seriously ill, we do not sufficiently appreciate this (temporary) absence of illness. However, when illness touches us closely, we realize the relative importance of other aspects of life to which we dedicate so much attention. We live in a privileged time where most diseases have some available treatment that can at least alleviate their symptoms or slow their progression. In many cases, treatment can even completely cure the disease. From our position in the first world in the 21st century, it is difficult to imagine what it would be like in ancient times to suffer from an illness that is easily curable today, but for which there was no treatment back then. For which there was not even any knowledge about its causes or possible progression. However, even today, millions of people worldwide experience this situation.

Rare diseases are a very diverse group of pathologies that have in common their low incidence, each affecting at most one in every 2,000 people. Although individually these diseases are uncommon, together they represent a very large number of affected individuals, as more than 7,000 rare diseases have been described. Thus, it is estimated that between the 6 and 8% of the population has a rare disease, representing millions of people worldwide. Many of these pathologies are serious, chronic and disabling. In addition, they are very difficult to diagnose due to their complexity and the lack of awareness about their existence. Once diagnosed, many of them have no effective treatment, or the available treatments are ineffective. Their low incidence also means that few resources are dedicated to research compared to other more common diseases. A similar situation occurs with neglected tropical diseases, which World Day is celebrated on January 30th. Mainly prevalent in tropical areas, they are a serious public health problem affecting millions of people. They are termed “neglected” because they barely appear in global health programs.

It is imperative that biomedical and biotechnological research, as well as global funding agencies, prioritize the development of effective and safe treatments for rare diseases and neglected tropical diseases. As a researcher, I have dedicated much of my effort to the study of rare diseases, particularly Lafora disease, a very serious neurodegenerative disease that affects teenagers. From the first symptoms, the life expectancy of Lafora patients is usually 5 to 10 years. When we started investigating the disease about 15 years ago, nothing was known about its causes or possible treatments. Today, thanks to research, we understand the disease much better and are closer to finding solutions. Also thanks to this research we have been able to better understand how the brain works and identify pathological processes that could participate in other neurodegenerative diseases. It is therefore important to understand that research on a particular rare disease not only serves to find solutions for a limited number of patients but provides valuable knowledge about how our body works, pathological mechanisms, and therapeutic tools.

But much more research is needed to find an effective therapy for Lafora disease. Recently, we produced a documentary called “Fighting the Rare” about the importance of biomedical research to find treatments for rare diseases, using research on Lafora disease as an example. As Niki, the mother of a patient, says in the documentary, “we can't do it next year or the year after... These children are not going to be alive next year or the year after. We need it now”.