Jordi Díaz-Manera is Professor of Neuromuscular Diseases, Translational Research, and Genetics at Newcastle University and an Honorary Consultant in Genetics at the Newcastle Upon Tyne Hospitals NHS Trust in the UK. Jordi did the undergraduate studies in Medicine in Universitat Rovira i Virigili in Tarragona and was trained from 2001 to 2005 in Neurology at Hospital de la Santa Creu i Sant Pau (HSCSP) in Barcelona.
Trained as an adult neurologist, he has dedicated his career to the study of inherited muscle disorders, including muscular dystrophies and metabolic myopathies. His research focuses on understanding the pathophysiology of these diseases to develop new therapeutic approaches.
Jordi specializes in Pompe Disease, contributing to its diagnosis, clinical-MRI correlations, and related research. He has helped develop treatment guidelines and serves on the Steering Committee of the European Pompe Consortium (EPOC). With a strong background in both basic and clinical research, Jordi has been actively involved in international conferences and has authored over 230 peer-reviewed scientific publications.
When and why did you decide to dedicate yourself to research on rare neuromuscular diseases?
I dedicated myself to neuromuscular diseases because, while studying medicine in Tarragona, I came into contact with the histology department, which was collaborating with Dr. Isabel Illa’s group at Sant Pau Hospital on a study about the development of the neuromuscular junction. I had always been very interested in biology and research, and that was where I started working in the field of neuromuscular diseases and developed an interest in this type of patients.
What caught my attention was the fact that there was a lot of research in the field and that so much was still unknown about diagnosis, pathophysiology, and treatments. I found it all very interesting as a way to develop a career as a researcher.
Can you explain what your work consists of and how it helps people with muscular diseases?
I am a doctor, an adult neurologist, and I have dedicated my entire career to diagnosing and monitoring patients with neuromuscular diseases. That means that a big part of my job is precisely to provide diagnoses, ensure proper follow-up, offer genetic counselling, and provide treatment to patients.
My research has focused on improving patient diagnosis. We have launched several studies, mainly involving MRI analysis for diagnosis and patient monitoring. We have also worked on developing biomarkers for clinical use and for clinical trials, to identify changes in a muscle disease and assess response to treatment. Additionally, on a more fundamental level, I have spent years studying the muscle regeneration process in patients with dystrophy, and we have been working on developing drugs that could slow disease progression. This work ultimately aims to provide therapeutic opportunities for patients.
Researching new therapies for these diseases must be a great challenge. What is the most difficult and the most rewarding aspect of your work?
The most difficult part is working with extremely rare samples. These are rare diseases, so we always have a small number of patients, and it is very difficult to find samples. Our work is even harder by the fact that we are dealing with a type of tissue that is almost impossible to obtain. We always work with very small sample sizes, which makes it difficult to obtain clear data on the results of our experiments.
At the same time, the most rewarding aspect is when a patient comes to us and thanks us. That is what I love most about the research we do—the fact that it has a direct impact on patients and that they truly see a benefit from our work.
This happens, for example, when we can provide a diagnosis thanks to the MRI analysis tools we have developed, when we enrol a patient in a clinical trial, or even when we explain basic research to them, and they appreciate that we are continuing to work on these issues.
You have worked in different countries and collaborated with scientists from around the world. How do you think international collaboration helps advance research?
International collaboration is essential in the field of rare diseases. Since there are very few patients, if we do not collaborate between centres, it is impossible to make real progress. But it is not just about having more samples—it is also about advancing in such a complex field, which requires input from experts in different areas.
A great example is a project we are preparing with the ICMAB, that we hope we can announce soon. We will have a clinical group doing basic research, which is us; we will have a group of chemists developing peptides; and we will also have a team working on nanoparticle formulation at the ICMAB. I am also involved in other projects where physicists, engineers, computer scientists, and mathematicians contribute. In today’s world, to move forward, we need multidisciplinary teams, and it is very difficult to have all the necessary expertise within a single group. Therefore, collaboration between different groups is fundamental, and international partnerships provide new perspectives on projects.
You are particularly interested in Pompe disease. What is the most important thing people should know about it?
Pompe disease is a rare genetic disorder affecting a gene responsible for processing glycogen and converting it into glucose for muscle function. The muscle is an organ that requires a lot of energy, mainly derived from glucose.
Patients with this disease accumulate glycogen inside their muscles because they cannot process it properly, making it difficult for them to obtain energy. This leads to progressive muscle weakness, affecting both skeletal and respiratory muscles. In more advanced stages of the disease, patients may lose the ability to walk and require ventilatory support.
Fortunately, there are treatments available—several drugs that provide the missing enzyme—but the effectiveness of these treatments is not complete, and unfortunately, patients continue to experience disease progression. Our research aims to improve these treatments.
Beyond scientific research, what other factors do you think are essential to improving the quality of life of patients with rare diseases?
First of all, raising awareness is the most important factor in rare diseases. Since these conditions are rare, people often do not even know they exist. Public awareness is crucial, both among the general population and among patients themselves, who sometimes do not know anyone else with the same condition and feel very isolated. This is where patient associations play a critical role—providing a space where people can share their experiences and find support.
Second, improving the education of healthcare professionals who treat these patients is essential. Many doctors are not familiar with these diseases, making them difficult to diagnose and treat. It is hard to diagnose a disease you do not know. That is why initiatives like the recent creation of reference centres for rare diseases by the Ministry of Health are so important—they ensure that patients receive the best possible care, follow-up, and diagnosis.
Finally, I believe educating policymakers is also crucial. They are the ones responsible for launching public campaigns and allocating resources, not only for infrastructure but also for policies that support people with disabilities caused by rare diseases.
What advice would you give to young researchers who want to specialize in this field?
My advice would be to stay open to learning across multiple areas. Researchers should not only learn new techniques but also visit different laboratories. In general, I think it is important for people to step out of their comfort zones. It is often tempting to stay in the place where you trained because you feel comfortable and already know the people there, but moving to new labs—whether within your country or abroad—is always beneficial. It allows you to experience different cultures and, most importantly, different ways of doing research.
Also, a researcher must be naturally curious. They should cultivate their curiosity. I would tell young researchers that, to make progress, they must always push further. In other words, they should never accept things at face value or perform a technique without fully understanding it, just because “that is how it is done.”
Today is the 2025 Rare Disease Day. Do you think it is important to dedicate a day each year to raising awareness about rare diseases?
Absolutely, I think it is essential to dedicate an international day to rare diseases. If we do not, these diseases remain invisible. There needs to be an initiative involving healthcare and research professionals, along with public authorities, to continue marking a day on the calendar to talk about rare diseases and raise awareness. Without increased awareness and knowledge of these diseases, it would be impossible to achieve the progress we aim for.
