In the framework of the International Rare Disease Day, Lovexair Foundation called for the Dr. Francisco Dasi, researcher at the Rare Respiratory Diseases Research Group of Inclusive, to address issues related to the advances and challenges of research in Alpha-1 and other low-prevalence respiratory pathologies.

In the interview, led by Arran Strong @arran_strong, surfer and ambassador of HappyAirThe team's young predoctoral researchers, Daniel Pellicer, Lucía Bañuls and María Magallón, also participated.

Arran Strong: What lines are you currently working on in Rare Diseases?

Dr. Dasi: We initially started with Alpha1, and it is one of the main lines of research of the laboratory. Initially all our work was with animal cultures, and we had practically no contact with patients. When we began to collaborate with the Dr. Amparo Escribano and Dr. Silvia Castillo, the Hospital's pulmonologist-pediatricians, told us about this other rare respiratory disease that they were working with, Primary Ciliary Dyskinesia, and that was when we incorporated it as another line of research.

Arran Strong: What are the advances or improvements in the early diagnosis of Rare Diseases?

 Dr. Dasi: Research is really a long-distance race, from the time you start until you start seeing some results, a lot of time passes. As we say, science is a matter of patience… You start with a hypothesis and you reach a dead end, where you see that it wasn't the right way. This itself is progress, because it confirms that this wasn't the case, but of course, it doesn't lead to progress for a new treatment…

However, much progress has been made. For example, until a few years ago antitrypsin deficiency was ultra-under-diagnosed; however, in the last 5 or 6 years, there have been a series of screening programs that have allowed advances in diagnosis. This has also been partly due to patient associations, who are now informed, active patients who “demand” the doctor, and thus identify that it is Alpha1 and not bronchial asthma, as was the case before.

Although the steps are small, a lot of progress is being made. For example, the Cystic fibrosis, also a rare respiratory disease, until about 15 years ago it was a pediatric disease, children died at 10 or 12 years of age. Now we have moved on to the adult clinic, and they are people who live to be 40 years old and more. And this has been achieved based on research, discovering that there is not a single mutation, but many, and each one associated with a severity. Therefore, specific drugs are developed for each of the mutations. We are getting to that personalized medicine.

The main stimulus is when we see that behind the investigation there is a person who suffers from a disease, and whom we can help. The world of science is exciting and has a very important social task…. that is not seen in the short term, but in the long term. Going to the doctor and being told “you have this and I am going to treat you with this, that it will improve you” gives us peace of mind: this is the objective of every researcher.  

Dr. Francisco Dasi

Arran Strong: What is your view on the training of professionals in these diseases?

Dr. Dasi: As we have seen, one of the main characteristics of the group of Rare Diseases is the great underdiagnosis that exists. Bear in mind that the symptoms of many of these diseases are the same as or compatible with other more common diseases of higher prevalence.

For example, Alpha 1 symptoms are compatible with COPD.

So what happens? The doctor first thinks of the most common symptoms, so he gives the patient a treatment that is appropriate for that disease.

This is fundamentally due to the fact that training in medical schools is very general, the diseases that are most frequently seen in the clinic are studied. The minorities are also addressed but very superficially, they do not represent the bulk of the subjects.

For all this, we proposed a research work with a series of surveys to medical students, primary care pediatricians, pediatric gastroenterologists, among others, to find out what the level of knowledge was regarding these rare diseases.

What we saw is that at the time of making the diagnosis there was a very deep lack of knowledge.

Based on these results and other works, we proposed and managed to establish within the curriculum of the medical degree in the Universidad de Valencia an optional subject, where only Rare Diseases are studied, so that doctors have at least the opportunity to expand their knowledge.

At the postgraduate level, we also include specific subjects on rare diseases, within the Master's in Physiology and Biomedical Research.

Full original article: Knowledge of Rare Respiratory Diseases among Pediatricians and Medical School Students

We thank Paco and his team, already INCLIVA Health Research Institute for participating in this space.

About Dr. Francisco Dasi

He holds a PhD in molecular biology and genetics, is an associate professor at the Department of Physiology, Faculty of Medicine, University of Valencia, and a member of the Valencia University Clinical Hospital Research Foundation and the INCLIVA Health Research Institute. Full Profile

The INCLIVA Health Research Institute manages biomedical research at the Hospital Clínico Universitario de Valencia.

Author:
Lila Martínez Ucha, Communication Department of the Lovexair Foundation

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Last updated on 7 March, 2026