The World Muscle Society is delighted to sponsor four Fellows from the International Centre for Genomic Medicine in Neuromuscular Diseases (ICGNMD) to attend its 2022 Congress.

Dr Tomaselli is an ICGNMD Faculty PI Fellow based at the University of São Paulo, Clinical Hospital of Ribeirão Preto, working in the team of Professor Wilson Marques and Prof Claudia Sobreira.  He has published widely in inherited ataxias and hereditary neuropathies, including Charcot-Marie-Tooth disease but brings to ICGNMD a broad-ranging interest in inherited neuromuscular and complex neurological disorders.

What has been your education and career path to date?

I did my general neurology training in Brazil from 2008 to 2011 at the Clinical Hospital of Ribeirão Preto.  At the same place I did a 2 year fellowship in Neuromuscular Disorders and Electromyography.  At the University of São Paulo (USP-Ribeirão Preto) I did a Masters Degree on Leprosy Neuropathy and a PhD on hereditary neuropathies, both under the supervision of Prof. Wilson Marques. I was a clinical research fellow at Queen Square focusing on hereditary neuropathies and the use of NGS under the supervision of Prof. Mary Reilly between 2014 and 2016. Currently, I'm a consultant neurologist at a Neuromuscular Outpatient Clinic for patients attending with acquired and genetic disorders. Since 2019 it has been an honour to be part of the ICGNMD. 

What is your current research project and why is this important?

I'm currently undertaking research in inherited neuromuscular disorders. My primary area is the investigation of Brazilian patients with complex hereditary neuropathies, to characterise the genetic profile of this specific cohort of patients. My second area encompasses the genetic investigation of overlapping genetic causes between HSP and axonal hereditary neuropathies (axonopathies). My third area is the clinical and genetic characterization of patients with LGMD. 

What are you most passionate about within this field?

My passion is working with genetics in neuromuscular disorders. There has been a huge number of drug approvals in the recent years for neurogenetic disorders.  The conversation with patients and relatives has changed dramatically, and some of the classical life threatening genetic neuromuscular disorders have had their natural history changed by therapeutic advances which are allowing us to add powerful tools to the management of these patients’ conditions. To be able to recognize patients that can be treated is indescribable. Additionally, being able to share all the passion and knowledge with young neurologists in my country is extremely stimulating.  

How has the ICGMND Fellowship supported your research and career development so far?

ICGNMD has created an unprecedented work environment for us. It has provided access to diagnostic tools that were scarcely available here. It has created huge opportunities for collaboration that will last for decades to come. This project enables us to discuss cases with specialists, optimize diagnosis and expand clinical protocols into our practice.   

What are you looking forward to most about attending the WMS2022 Congress?

The 2022 WMS Congress will be a good opportunity to improve our skills as researchers and guarantee that they will be translated into benefits to our patients. 
It will be a fantastic opportunity to meet the best researchers in the field. It will allow us to learn the latest advances and innovations, many even before they are published. Online events have transformed the scientific environment recently, but the possibility of establishing connections and partnerships in face-to-face events is something very powerful. 

How does being part of a global research community support your work?

Every day it is more difficult to develop a solid line of research on rare genetic disorders in one isolated centre, even in developed countries. Due to limited number of "good" patients/families (multigenerational families are no longer the rule), due to limited resources (especially in low and middle income countries), due to lack of knowledge and how to start a sustainable facility, there is no shadow of a doubt that collaborative studies are essential to increase study power (through bigger numbers of cases and expanded genetic diversity and inclusion), to increase the number of trained researchers with specific skills, and to reduce the indirect costs and disseminate learning.      

What excites you about the future of your field of research?

The number of major discoveries in recent years is daunting, but is just the beginning. The mere possibility that some hitherto incurable diseases may, in the near future, be the target of innovative and revolutionary treatments, gives us the great responsibility of effort and dedication. Being able to be part of this momentum in science is a very exciting and important responsibility. I hope that the lessons learned will benefit people all over the world. 

 

Published on 5 October 2022.

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This article is presented by the Myology developments across the world Committee.

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