Jorge Bevilacqua is a familiar face within the WMS and has been involved since attending the Summer School of Myology in Paris in 2003. As our newly appointed deputy chair of our Pre-Congress Teaching Course post-2024, Jorge is dedicated to educating early career researchers and clinicians across the field of neuromuscular disorders.
Jorge graduated from the National University of La Plata in Argentina in 1989 before completing his PhD in Neurobiology at the University of Wales in Cardiff in 1994. He revalidated his medical degree in Chile in 1995, certified in Adult Neurology at the University of Chile in 2001, gained further qualifications as a neuromuscular neurophysiologist there in 2005 and studied for an inter-university Diploma of Myology at the University Pierre et Marie Curie in Paris and University Aix-Marseille, France in 2006, during this time he also trained in muscle pathology at the Institute of Myology at the Pitié-Salpêtrière Hospital in Paris.
With all this training and decades of experience, it makes sense that Jorge is now sharing his wealth of knowledge throughout Latin America and across the world. But what led him to follow a career in myology in particular? Jorge says: “I have a fascination for microscopical anatomy (histology, histopathology). Early in my medical career, I started as an undergraduate histology teacher.
“I started a residency in Pathology at the University of Buenos Aires in Argentina, but I didn’t complete it as I migrated to the UK to pursue my PhD in neurobiology. When returning to Latin America, I settled in Santiago, Chile and initiated my residency in clinical neurology. In Chile, myology as a discipline was and still is underdeveloped, I saw it as a fantastic opportunity to combine histopathology and clinical neuromuscular neurology in my daily practice. Then I decided to pursue specific training in the field, in Argentina first and then at the Institute of Myology in Paris, France.”
Working in Chile has defined Jorge’s area of clinical interest. He says: “I mainly focus on dysferlinopathies since its prevalence in Chile is high, higher than other forms of myopathy, and probably relatively higher than in other countries of the region. However, I am also working to establish myology as a discipline in my country. In that sense, I participate and collaborate with many different initiatives, from logistical implementation of diagnostic procedures in myology, to educational activities of all sorts. And from implementing basic scientific research projects to empowering patient advocacy groups. We have had to create almost everything here from scratch.”
Jorge is currently affiliated with the Hospital Clínico at the University of Chile, where he works in the neuromuscular unit in the department of neurology and neurosurgery as well as in the department of anatomy and legal medicine. He is also affiliated with the Clínica Dávila, Santiago, where he works in the neuromuscular pathology unit. He is the neuromuscular unit head for both institutions and a professor in the faculty of medicine at the University of Chile. We asked Jorge to describe the nature of his work, he says: “In both institutions where I work, my activity is divided between clinical neuromuscular practice, including electrophysiological (EMG and NCS studies) procedures and muscle biopsy sampling and interpretation, teaching and training of undergraduate students, neurology residents and neuromuscular fellows and implementation of research projects related to the field, locally and more frequently in collaboration with Europe and North America.”
As one of our strongest advocates for creating a truly global network of myologists, Jorge works tirelessly to raise the profile of neuromuscular disorders around the world so clinicians everywhere can benefit from the latest advances in science for their patients. He says being part of the WMS community and belonging to a community with a common identity matters so much: “The WMS is one of these networks that gathers those interested in myology to work on a shared objective. This feeling is crucial since our role can become lonely and frustrating otherwise.”
Speaking specifically of his work in Latin America, Jorge says: “As in any other parts of the globe, myology is somehow a discipline that has been left aside. There aren’t many clinicians in this region who specialise in myology, so we help as many patients as we can. The rarity of myopathies compared with other more frequent disorders makes it a cumbersome field to deal with. On top of that, diagnostic procedures are only partially available in the country. They are usually expensive and require special training and expertise to be implemented effectively. The lack of trained physicians in the field impacts the scarce disciplinary development.
“Public facilities are lacking in the field of myology: in the Chilean public healthcare system there is not even a nationwide neuromuscular histopathology laboratory, nor genetic diagnosis (there are only 36 geneticists in the whole country!) and even less radiological diagnosis. Only clinical and electrophysiological studies are available. Together with a few colleagues devoted to the field we form the nexus for these orphan patients to the medical community. Due to our interest in the field, we are in a position to complete the diagnostic process for patients that have been abandoned by the public healthcare system. Even in private practice, where there are more facilities, access to neuromuscular specialists is difficult mainly due to high costs.
“We need training in the field for more healthcare personnel (i.e. not only physicians), to create a critical mass empowered to diagnose, manage, treat, and guide these patients and their families. A kind of national myology institute. Whilst in Chile we have limitations, in the Latin American region there are countries where the situation is even more complicated.”
It is the generosity and resilience of the patients that keeps Jorge motivated, even when the systems seem to conspire against him and his colleagues: “I am grateful because they give us the possibility to learn and to help, to make our contribution. I admire them. With time we develop a friendly relationship I have been able to see them not just as patients, but as individuals struggling to get ahead, despite their difficulties.
“To me the most challenging patients are the ones that combine neuromuscular disease with cognitive impairment, as in myotonic dystrophy, for example. Without appropriate tools, any neuromuscular case is challenging. We need to develop ingenious strategies to reach the diagnosis and to manage these patients afterwards.
“The potential to change a patient’s reality for the better is what inspires me to continue working with patients with neuromuscular disorders. Developing the discipline in the country and the region and satisfying my own scientific curiosity while trying to understand how some biological phenomena work all keep me interested in the field. The advent of disease-modifying therapies is now an excellent incentive although accessing them, especially in the Latin American context is still a concern.”
The field of neuromuscular disorders has changed immeasurably since Jorge first qualified in 1989. He says: “Access to complex genetic diagnosis is now much cheaper and easier, treatments have developed fast in front of us, amazing genetic-engineering revolutionary tools were created in such a way we have never imagined before, and integration of patients to be part of the solution of their own disorders is something that was simply not imaginable when I started studying medicine. Myology changed from being one of the most obscure fields of medicine to one of the most brilliant ones scientifically speaking. Whilst we still know little about the pathogenesis of very well-known diseases, for example, Alzheimer’s and Parkinson’s, we do know enough to develop mutation-tailored treatments for some muscular diseases and the molecular cause and underlying disease mechanisms of most of them.
“In the future, I hope that all the efforts the scientific community has put into the discovery of mechanisms of disease and treatment, will result in better accessibility for patients to care and treatment worldwide at a reasonable cost. The price tags of most of these novel therapies are just not reasonable. These achievements are the consequence of a community effort through time, and it must return to the patient and scientific community.”
Jorge believes networking is key to overcoming challenges in the field. He says: “Through networking, we bring together qualified myologists capable of helping patients and creating resources. Networking has allowed us to be able to diagnose, train colleagues and do research. It is simply indispensable. To me, networking is not only a tool, it gives me lots of opportunities to make new friends, to travel and to know diverse realities across the world.
“I feel happy with my contribution to disseminating the knowledge of myology in Latin America through our Euro Latin American Summer School of Myology, which I keep proudly close to my heart.
“I encourage all early career researchers and clinicians to engage! Myology is a fascinating discipline at an amazing time, it gives you the possibility to satisfy both your scientific curiosity and your interest in clinical work while being embedded in a close friendly community with many objectives in common.”
Our final question to Jorge was to ask him to give us a fact that many other people don’t know. Here’s his response: “On the professional side, as I have said, my love and passion for histology. From a more personal perspective, my devotion to gardening and cats; my skills as a cook and guitarist, or perhaps my swimming habit, I don’t know what others know about me anyway!”
Many thanks to Jorge Bevilacqua for so generously giving his time and sharing his wealth of experience in this interview.
This article is presented by the
Myology developments across the world Committee.
Published on 23 July 2024.