We meet Pedro M Rodríguez Cruz, La Caixa Junior Leader Fellow, CNAG-CRG, Centre for Genomic Regulation.

Affiliation:

Centro Nacional de Análisis Genómico (CNAG-CRG), Centre for Genomic Regulation, Barcelona, Spain
Université Cheikh Anta Diop – Department of Human Genetics, Dakar, Senegal
UCL Institute of Neurology - Department of Neuromuscular Diseases, London, UK

Position:

La Caixa Junior Leader Fellow

What education and training did you have to arrive at your current position?

I did my training in Neurology in Madrid, Spain, where I had my first contact with neuromuscular disorders (NMDs). Then, following a short stay at the former Australian Neuromuscular Research Institute (ANRI) in Perth, Western Australia, working with Prof Frank Mastaglia on inflammatory myopathies, I became interested in clinical research. Next, I moved to the UK, where I worked as a Clinical Research Fellow and completed a DPhil in Clinical Neurosciences at Oxford University under the supervision of Prof David Beeson and Prof Jackie Palace. My work was focused on the clinical and molecular characterization of undefined myasthenias but also on optimizing treatment strategies for congenital myasthenic syndromes. More recently, I have boosted my career by connecting with the developing world in Senegal, West Africa, where I lead a clinical research program into NMDs, thanks to the support of Centro Nacional de Análisis Genómico (CNAG-CRG) and La Caixa Foundation in Spain.

What led you to follow a career in myology?

I was always fascinated by the complexity of NMDs, in particular genetics, and how mutations in the same gene could result in different phenotypes, and vice versa. Also, the fact that most NMDs impact patients from early life and currently lack disease-modifying therapies, was what motivated me the most to work in this field and contribute to its development.

What is your current research or clinical interest in myology?

I am interested in diversifying genetic research into NMDS to include diverse, multiethnic populations to accurately represent NMDs across the world. Understanding the genetic architecture of NMDs in Sub-Saharan Africa is crucial to plan and deliver appropriate care to local patients. Furthermore, the missing diversity in human genetic studies means that patients from sub-Saharan Africa could be at risk of being excluded from the benefits of gene therapy and future personalized medicine, which are currently being developed solely on findings from patients with European ancestry, and as a result increasing the current health gap. I also have a special interest in the congenital myasthenic syndromes and in the study of the neuromuscular junction in health and disease.

Why are you passionate about developing a neuromuscular centre in Senegal?

I believe there are many patients and families with NMDs from Senegal and neighboring countries in West Africa with unmet needs. Limited access to muscle biopsy studies and genetic testing has been a major obstacle to the development of neuromuscular centers in the region. However, I am confident that current advances in genomics, especially the reduction of NGS prices, will be of great help in the near future to improve the proportion of patients with a precise diagnosis. Dakar is one of the hubs for neurology training in Africa, drawing doctors from the north, west and even east of the continent for specialized training. I believe that the development of a neuromuscular centre in Dakar could contribute to the development of myology, not only in Senegal but throughout Africa, as African trainees coming to Dakar could take this knowledge back to their home countries.

What is the nature of work you are involved with in Senegal?

I do neuromuscular clinics twice a week at Centre Hospitalier National Universitaire (CHNU) de Fann in Dakar where I see adult and paediatric patients and families with NMDs. Transport is a real challenge for patients with NMDs in Senegal, so I also do joint clinics with local Neurologists in other parts of the country. I am involved in clinical care and recruitment of participants for research and genetic studies, as well as in the biobank. I run the bioinformatics analysis of DNA samples, with the support of CNAG-CRG and the Bioinformatics Unit led by Dr. Sergi Beltran. I provide "research-based" genetic reports to doctors and patients. I am also involved in promoting visibility, public awareness and advocacy for NMDs in Senegal by working closely with patient associations for rare diseases in the country.

Would you please introduce your fellow doctors in Senegal?

I could have never achieved any of this without the support of Prof Amadou Gallo Diop, Head of the Neurology Department at CHNU de Fann in Dakar, and Prof Moustapha Ndiaye, Head of Paediatric Neurology in Senegal. When I first contacted them in late 2019 upon my arrival in Dakar, they were extremely welcoming and supportive from day one, and this was a motivation for me to take on this challenge. Prof A. Gallo Diop has 30 years of experience as a Neurologist in Africa and his work has been crucial to the development of neurology in Africa. Prof Moustapha Ndiaye was the first Neuropaediatrician in Senegal. He has more than 20 years of experience as a consultant paediatric neurologist. He is in charge of training the future team of Neuropaediatricians from Senegal, as well as from many other African countries who come to Dakar for training.

What are the regional challenges from the point of view of local doctors in the field of myology?

I believe one of the biggest local challenges in the field of myology has been the limited access to muscle biopsy and genetic testing. This has made it difficult to deliver accurate diagnoses to patients in the first place and to plan personalised care accordingly. Other significant challenge is transportation. Some families need to make a huge economic effort to arrange transport to the hospital, and that makes patients follow-up difficult. Also, I have noticed that some patients tend to visit hospitals late as they are first keen on trying traditional medicine approaches. It is therefore essential to promote visibility, public awareness and advocacy for NMDs.

Who does your work help patients in this region?

I believe our work is helping to increase the proportion of patients with a precise genetic diagnosis and to provide genetic counselling to families. Making a precise genetic diagnosis allows the implementation of personalized disease management plans based on care guidelines, which can help to improve health outcomes. Furthermore, I also believe that having a precise diagnosis empower patients and families to take control of their health. We are also working on providing families with simple but accurate information about their NMD condition, including patient leaflets, which is helping to tackle stigmatization and avoid misconception.

What do you love most about working in Senegal?

I am really enjoying working at the community level, engaging with patients, families and organizations to promote care for patients with NMDs. It is still early days for NMDs in Senegal, so working with different actors to identify the needs, opportunities, and being part of change is very satisfying.

How do you see networking as a way to empower myologists?

Networking is a powerful tool to build capacity and generate local expertise, especially in low-resource settings where medical infrastructure and high specialisation is scarce. I believe we can empower local doctors, patients and families by connecting them with available resources and appropriate networks, as a part of a global action plan for NMDs to promote visibility, accelerate diagnosis, and improve patient care across the world. Enhancing research capacity for NMDs in Sub-Saharan Africa is equally important, including the development of joint research programs, academic partnerships or for instance, the realization of clinical trials, which rarely take place in Sub-Saharan Africa.

What inspires you to continue working in Senegal?

It inspires me that there is a lot of work to be done. I am passionate about discovering new disease genes and mutations that will improve our knowledge of NMDs, but even understanding which NMDs are more common in the local population is exciting. For instance, we rarely see patients with myotonic dystrophy, FSHD or IBM in Senegal, which represent a great proportion of the adult neuromuscular clinic in the western world. Understanding these important differences is key to meeting the needs of local patients’ needs and being able to provide better care, and that inspires to continue working in the country.

What is one unique fact about you that many other people do not know?

I barely spoke French when I first arrived to Dakar from the UK, but now than I have mastered it, my next challenge is Wolof, the local language.

How can being part of of the WMS community encourage you and help your work?

WMS is a unique community, a rich soil in which you can share, promote, discuss and feedback your work. It offers you the opportunity to collaborate with people from different institutions and backgrounds, which can only be enriching. It is by working together and joining forces that we can make a difference and meet our patients needs

Pedro with Prof Gallo, Head of the Neurology Department